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Academic literature on the topic 'AFG3L2'

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Published: 10 March 2023

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Journal articles on the topic "AFG3L2"

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Koppen, Mirko, Florian Bonn, Sarah Ehses, and Thomas Langer. "Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria." Molecular Biology of the Cell 20, no. 19 (October 2009): 4216–24. http://dx.doi.org/10.1091/mbc.e09-03-0218.

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m-AAA proteases are ATP-dependent proteolytic machines in the inner membrane of mitochondria which are crucial for the maintenance of mitochondrial activities. Conserved nuclear-encoded subunits, termed paraplegin, Afg3l1, and Afg3l2, form various isoenzymes differing in their subunit composition in mammalian mitochondria. Mutations in different m-AAA protease subunits are associated with distinct neuronal disorders in human. However, the biogenesis of m-AAA protease complexes or of individual subunits is only poorly understood. Here, we have examined the processing of nuclear-encoded m-AAA protease subunits upon import into mitochondria and demonstrate autocatalytic processing of Afg3l1 and Afg3l2. The mitochondrial processing peptidase MPP generates an intermediate form of Afg3l2 that is matured autocatalytically. Afg3l1 or Afg3l2 are also required for maturation of newly imported paraplegin subunits after their cleavage by MPP. Our results establish that mammalian m-AAA proteases can act as processing enzymes in vivo and reveal overlapping activities of Afg3l1 and Afg3l2. These findings might be of relevance for the pathogenesis of neurodegenerative disorders associated with mutations in different m-AAA protease subunits.
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Koppen, Mirko, Metodi D. Metodiev, Giorgio Casari, Elena I. Rugarli, and Thomas Langer. "Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia." Molecular and Cellular Biology 27, no. 2 (November 13, 2006): 758–67. http://dx.doi.org/10.1128/mcb.01470-06.

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ABSTRACT The m-AAA protease, an ATP-dependent proteolytic complex in the mitochondrial inner membrane, controls protein quality and regulates ribosome assembly, thus exerting essential housekeeping functions within mitochondria. Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. Paraplegin assembles with homologous Afg3l2 subunits into hetero-oligomeric complexes which can substitute for yeast m-AAA proteases, demonstrating functional conservation. The function of a third paralogue, Afg3l1 expressed in mouse, is unknown. Here, we analyze the assembly of paraplegin into m-AAA complexes and monitor consequences of paraplegin deficiency in HSP fibroblasts and in a mouse model for HSP. Our findings reveal variability in the assembly of m-AAA proteases in mitochondria in different tissues. Homo-oligomeric Afg3l1 and Afg3l2 complexes and hetero-oligomeric assemblies of both proteins with paraplegin can be formed. Yeast complementation studies demonstrate the proteolytic activity of these assemblies. Paraplegin deficiency in HSP does not result in the loss of m-AAA protease activity in brain mitochondria. Rather, homo-oligomeric Afg3l2 complexes accumulate, and these complexes can substitute for housekeeping functions of paraplegin-containing m-AAA complexes. We therefore propose that the formation of m-AAA proteases with altered substrate specificities leads to axonal degeneration in HSP.
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Cesnekova, Jana, Marie Rodinova, Hana Hansikova, Jiri Zeman, and Lukas Stiburek. "Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis." International Journal of Molecular Sciences 19, no. 12 (December 7, 2018): 3930. http://dx.doi.org/10.3390/ijms19123930.

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Mitochondrial protein quality control is crucial for the maintenance of correct mitochondrial homeostasis. It is ensured by several specific mitochondrial proteases located across the various mitochondrial subcompartments. Here, we focused on characterization of functional overlap and cooperativity of proteolytic subunits AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) and YME1L (YME1 like ATPase) of mitochondrial inner membrane AAA (ATPases Associated with diverse cellular Activities) complexes in the maintenance of mitochondrial structure and respiratory chain integrity. We demonstrate that loss of AFG3L2 and YME1L, both alone and in combination, results in diminished cell proliferation, fragmentation of mitochondrial reticulum, altered cristae morphogenesis, and defective respiratory chain biogenesis. The double AFG3L2/YME1L knockdown cells showed marked upregulation of OPA1 protein forms, with the most prominent increase in short OPA1 (optic atrophy 1). Loss of either protease led to marked elevation in OMA1 (OMA1 zinc metallopeptidase) (60 kDa) and severe reduction in the SPG7 (paraplegin) subunit of the m-AAA complex. Loss of the YME1L subunit led to an increased Drp1 level in mitochondrial fractions. While loss of YME1L impaired biogenesis and function of complex I, knockdown of AFG3L2 mainly affected the assembly and function of complex IV. Our results suggest cooperative and partly redundant functions of AFG3L2 and YME1L in the maintenance of mitochondrial structure and respiratory chain biogenesis and stress the importance of correct proteostasis for mitochondrial integrity.
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Ehses, Sarah, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I. Rugarli, and Thomas Langer. "Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1." Journal of Cell Biology 187, no. 7 (December 28, 2009): 1023–36. http://dx.doi.org/10.1083/jcb.200906084.

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Mitochondrial fusion depends on the dynamin-like guanosine triphosphatase OPA1, whose activity is controlled by proteolytic cleavage. Dysfunction of mitochondria induces OPA1 processing and results in mitochondrial fragmentation, allowing the selective removal of damaged mitochondria. In this study, we demonstrate that two classes of metallopeptidases regulate OPA1 cleavage in the mitochondrial inner membrane: isoenzymes of the adenosine triphosphate (ATP)–dependent matrix AAA (ATPase associated with diverse cellular activities [m-AAA]) protease, variable assemblies of the conserved subunits paraplegin, AFG3L1 and -2, and the ATP-independent peptidase OMA1. Functionally redundant isoenzymes of the m-AAA protease ensure the balanced accumulation of long and short isoforms of OPA1 required for mitochondrial fusion. The loss of AFG3L2 in mouse tissues, down-regulation of AFG3L1 and -2 in mouse embryonic fibroblasts, or the expression of a dominant-negative AFG3L2 variant in human cells decreases the stability of long OPA1 isoforms and induces OPA1 processing by OMA1. Moreover, cleavage by OMA1 causes the accumulation of short OPA1 variants if mitochondrial DNA is depleted or mitochondrial activities are impaired. Our findings link distinct peptidases to constitutive and induced OPA1 processing and shed new light on the pathogenesis of neurodegenerative disorders associated with mutations in m-AAA protease subunits.
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Tulli, Susanna, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, et al. "Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation." Journal of Medical Genetics 56, no. 8 (March 25, 2019): 499–511. http://dx.doi.org/10.1136/jmedgenet-2018-105766.

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BackgroundSpinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular mechanisms of SCA28, which has eluded characterisation to date.MethodsWe derived SCA28 patient fibroblasts carrying different pathogenic variants in the AFG3L2 proteolytic domain (missense: the newly identified p.F664S and p.M666T, p.G671R, p.Y689H and a truncating frameshift p.L556fs) and analysed multiple aspects of mitochondrial physiology. As reference of residual m-AAA activity, we included SPAX5 patient fibroblasts with homozygous p.Y616C pathogenic variant, AFG3L2+/− HEK293 T cells by CRISPR/Cas9-genome editing and Afg3l2−/− murine fibroblasts.ResultsWe found that SCA28 cells carrying missense changes have normal levels of assembled m-AAA complexes, while the cells with a truncating pathogenic variant had only half of this amount. We disclosed inefficient mitochondrial fusion in SCA28 cells caused by increased OPA1 processing operated by hyperactivated OMA1. Notably, we found altered mitochondrial proteostasis to be the trigger of OMA1 activation in SCA28 cells, with pharmacological attenuation of mitochondrial protein synthesis resulting in stabilised levels of OMA1 and OPA1 long forms, which rescued mitochondrial fusion efficiency. Secondary to altered mitochondrial morphology, mitochondrial calcium uptake resulted decreased in SCA28 cells.ConclusionOur data identify the earliest events in SCA28 pathogenesis and open new perspectives for therapy. By identifying similar mitochondrial phenotypes between SCA28 cells and AFG3L2+/− cells, our results support haploinsufficiency as the mechanism for the studied pathogenic variants.
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Duvezin-Caubet, Stéphane, Mirko Koppen, Johannes Wagener, Michael Zick, Lars Israel, Andrea Bernacchia, Ravi Jagasia, et al. "OPA1 Processing Reconstituted in Yeast Depends on the Subunit Composition of the m-AAA Protease in Mitochondria." Molecular Biology of the Cell 18, no. 9 (September 2007): 3582–90. http://dx.doi.org/10.1091/mbc.e07-02-0164.

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The morphology of mitochondria in mammalian cells is regulated by proteolytic cleavage of OPA1, a dynamin-like GTPase of the mitochondrial inner membrane. The mitochondrial rhomboid protease PARL, and paraplegin, a subunit of the ATP-dependent m-AAA protease, were proposed to be involved in this process. Here, we characterized individual OPA1 isoforms by mass spectrometry, and we reconstituted their processing in yeast to identify proteases involved in OPA1 cleavage. The yeast homologue of OPA1, Mgm1, was processed both by PARL and its yeast homologue Pcp1. Neither of these rhomboid proteases cleaved OPA1. The formation of small OPA1 isoforms was impaired in yeast cells lacking the m-AAA protease subunits Yta10 and Yta12 and was restored upon expression of murine or human m-AAA proteases. OPA1 processing depended on the subunit composition of mammalian m-AAA proteases. Homo-oligomeric m-AAA protease complexes composed of murine Afg3l1, Afg3l2, or human AFG3L2 subunits cleaved OPA1 with higher efficiency than paraplegin-containing m-AAA proteases. OPA1 processing proceeded normally in murine cell lines lacking paraplegin or PARL. Our results provide evidence for different substrate specificities of m-AAA proteases composed of different subunits and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin-like GTPases in mitochondria.
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Almomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (June 2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar syndrome Methods: From a neurogenetic clinic , we identified 11 patients with late-onset HSP. Sequencing of SPG7 and AFG3L2 was performed using a customised assay, and/or clinical diagnostic sequencing panels.SPG7 transcript level quantification was performed from whole blood RNA on a digital droplet qPCR system. Results: We identified 4 patients with pathogenic variants or variants of unknown significance in SPG7. No AFG3L2 mutations were identified. We provide evidence for pathogenicity for three mutations that were not previously associated with SPG7-related disease, based on their occurrence in context of the correct phenotype, and the reduction of transcript levels measured with RT-qPCR.A curious association of the heterozygous p.Gly349Ser mutation in association with an ALS-like syndrome is reported. Conclusions:SPG7 mutations sequencing has high diagnostic yield in late onset paraparesis
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Atorino, Luigia, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, and Giorgio Casari. "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia." Journal of Cell Biology 163, no. 4 (November 17, 2003): 777–87. http://dx.doi.org/10.1083/jcb.200304112.

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Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to be aberrant in HSP fibroblasts. The loss of this complex causes a reduced complex I activity in mitochondria and an increased sensitivity to oxidant stress, which can both be rescued by exogenous expression of wild-type paraplegin. Furthermore, complementation studies in yeast demonstrate functional conservation of the human paraplegin–AFG3L2 complex with the yeast m-AAA protease and assign proteolytic activity to this structure. These results shed new light on the molecular pathogenesis of HSP and functionally link AFG3L2 to this neurodegenerative disease.
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Charif, Majida, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, et al. "Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy." Neurology Genetics 6, no. 3 (May 20, 2020): e428. http://dx.doi.org/10.1212/nxg.0000000000000428.

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ObjectiveTo improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.MethodsExonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI.ResultsWe identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported.ConclusionsOur results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.
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Sacco, Tiziana, Enrica Boda, Eriola Hoxha, Riccardo Pizzo, Claudia Cagnoli, Alfredo Brusco, and Filippo Tempia. "Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease." BMC Neuroscience 11, no. 1 (2010): 55. http://dx.doi.org/10.1186/1471-2202-11-55.

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Dissertations / Theses on the topic "AFG3L2"

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FRACASSO, VALENTINA. "Functional analysis of AFG3L2 mutations causing spinocerebellar ataxia type 28 (SCA28)." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/20215.

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Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA–deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.
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Kondadi, Arun Kumar [Verfasser], Elena [Akademischer Betreuer] Rugarli, and Thomas [Akademischer Betreuer] Langer. "AFG3L2 deficiency impairs axonal transport of mitochondria dependent on ROS and tau levels / Arun Kumar Kondadi. Gutachter: Elena Rugarli ; Thomas Langer." Köln : Universitäts- und Stadtbibliothek Köln, 2014. http://d-nb.info/1053762518/34.

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Fuchs, Monika. "Lokalisierung und Charakterisierung der AAA+-Proteine AFG1L2 und AFG1L1 aus Arabidopsis thaliana." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-151544.

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Seegobin, Matthew. "Examining Parkinson’s Disease Linked DJ-1 and its Interaction with Autophagy Related ATG5 and ATG12 & Understanding PINK1’s Functional Interaction with Mitochondrial m-AAA Protease AFG3L2." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/35701.

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Mutations in DJ-1 and PTEN-induced putative kinase 1 (PINK1) have been linked to familial early-onset Parkinson’s disease. However, their functional role is not well understood. Through a mass-spectrometry screen we identified protein interaction candidates ATG5 and ATG12 for DJ-1 and AFG3-like AAA ATPase 2 (AFG3L2) for PINK1. Examination of ATG5, ATG12, and DJ-1 by co-immunoprecipitation through multiple methods, did not validate the interaction. In contrast, the interaction between m-AAA protease AFG3L2 and PINK1 was validated. AFG3L2 selectively stabilized and can differentially cleave PINK1 in-vitro. We observed endogenous mitophagy in AFG3L2 null cells. Furthermore, we elucidated a novel function of mitochondrially-targeted PINK1 fragments in rescuing endogenous mitochondrial fragmentation, increasing both mitochondrial length and networking. Although further examination is needed, these studies provide a greater understanding of the functional interaction between PINK1 and AFG3L2 and provide evidence that DJ-1, ATG5 and ATG12 may not interact.
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Fuchs, Monika [Verfasser], and Ute [Akademischer Betreuer] Vothknecht. "Lokalisierung und Charakterisierung der AAA+-Proteine AFG1L2 und AFG1L1 aus Arabidopsis thaliana / Monika Fuchs. Betreuer: Ute Vothknecht." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2012. http://d-nb.info/1029662630/34.

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Bussemer, Johanna. "Identifizierung und Charakterisierung von AFG1L1 einer dual-lokalisierten, Calmodulin-bindenden AAA+-ATPase aus A. thaliana." Diss., lmu, 2009. http://nbn-resolving.de/urn:nbn:de:bvb:19-105805.

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Marka, Claudia [Verfasser], Peter [Akademischer Betreuer] Hofner, Katharina [Akademischer Betreuer] Schreyer, and Peter [Akademischer Betreuer] Schilke. "The close environment of AFGL 490 in radio-interferometric observations = Die nahe Umgebung von AFGL 490 in radiointerferometrischen Beobachtungen / Claudia Marka. Gutachter: Peter Hofner ; Katharina Schreyer ; Peter Schilke." Jena : Thüringer Universitäts- und Landesbibliothek Jena, 2015. http://d-nb.info/1075492831/34.

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Jose, Jessy, Jinyoung S. Kim, Gregory J. Herczeg, Manash R. Samal, John H. Bieging, Michael R. Meyer, and William H. Sherry. "STAR FORMATION IN W3—AFGL 333: YOUNG STELLAR CONTENT, PROPERTIES, AND ROLES OF EXTERNAL FEEDBACK." IOP PUBLISHING LTD, 2016. http://hdl.handle.net/10150/621216.

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One of the key questions in the field of star formation is the role of stellar feedback on the subsequent star formation process. The W3 giant molecular cloud complex at the western border of the W4 super bubble is thought to be influenced by the massive stars in W4. This paper presents a study of the star formation activity within AFGL. 333, a similar to 104 M-circle dot cloud within W3, using deep JHK(s) photometry obtained from the NOAO Extremely Wide Field Infrared Imager combined with Spitzer IRAC and MIPS photometry. Based on the infrared excess, we identify 812 candidate young stellar objects (YSOs) in the complex, of which 99 are Class I and 713 are Class II sources. The stellar density analysis of YSOs reveals three major stellar aggregates within AFGL. 333, namely AFGL. 333 Main, AFGL. 333 NW1 and AFGL. 333 NW2. The disk fraction within AFGL. 333 is estimated to be similar to 50%-60%. We use the extinction map made from the H - K-s colors of the background stars and CO data to understand the cloud structure and to estimate the cloud mass. From the stellar and cloud mass associated with AFGL. 333, we infer that the region is currently forming stars with an efficiency of similar to 4.5% and at a rate of similar to 2-3M(circle dot) Myr(-1) pc(-2). In general, the star formation activity within AFGL. 333 is comparable to that of nearby low mass star-forming regions. We do not find any strong evidence to suggest that the stellar feedback from the massive stars of nearby W4 super bubble has affected the global star formation properties of the AFGL. 333 region.
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Tesařová, Jana. "Funkční charakterizace LACE1 ATPázy a mitochondriálních AAA proteáz YME1L a AFG3L2 v mitochondriální proteinové homeostáze." Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-393077.

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Mitochondrial protein homeostasis is crucial for cellular function and integrity. It is ensured by many specific mitochondrial proteases with possible chaperone functions located across the various mitochondrial subcompartments. In the first part, we have focused on characterization of functional overlap and cooperativity of proteolytic subunits AFG3L2 and YME1L of the mitochondrial inner membrane complexes m- and i-AAA in HEK293 cells. The double AFG3L2/YME1L knockdown cells showed severe alteration in OPA1 protein processing, marked elevation in OMA1 protease and severe reduction in SPG7. Our results reveal cooperative and partly redundant involvement of AFG3L2 and YME1L in the maintenance of mitochondrial protein homeostasis and further emphasize their importance for mitochondrial and cellular function and integrity. The aim of the second part was to characterize the cellular function of LACE1 (lactation elevated 1) in mitochondrial protein homeostasis. LACE1 protein is a human homologue of yeast Afg1 (ATPase family gene 1) ATPase. We show that LACE1 is a mitochondrial integral membrane protein that exists as a part of three complexes of approximately 140, 400 and 500 kDa. We demonstrate that LACE1 mediates degradation of nuclear-encoded complex IV subunits COX4, COX5A and COX6A. Using affinity...
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Galatolo, Daniele. "An integrated, next-generation approach to identify new genes and new pathways in hereditary ataxias." Doctoral thesis, 2020. http://hdl.handle.net/2158/1188709.

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The Hereditary ataxias (HAs) are a group of heterogenous neurological disorders associated with multiple genetic etiologies and encompassing a wide spectrum of phenotypes, where ataxia is the prominent feature. HAs are characterized by degeneration of Purkinje cell and/or spinocerebellar connections, often associated with defects in additional brain structures, and all patterns of inheritance may occur. Similar to other fields of medical genetics, Next Generation Sequencing (NGS) has entered the HA scenario widening our genetic and clinical knowledge of this condition, but routine NGS applications still miss genetic diagnosis in about two third of patients. In this doctoral study, we applied multi-gene panels to define the molecular basis in 259 patients with a clinical diagnosis of HA and negative to tests for pathological expansion in SCA1, 2, 3, 6, 7, 8, 12, 17 and FXN. We found a positive molecular diagnosis in 25% of patients, whereas a similar number of patients had an uncertain diagnosis due to the presence of either variants of uncertain significance or lack of biological samples to determine segregation among family members. Hence despite a higher positive diagnostic rate compared to similar studies described in literature, a half of patients lacked any indication of the genetic cause of their disease. Using exome sequencing as a second-tier approach in some families, refractory to multi-gene panel analysis, did not significantly improved our diagnostic yield. On the other hand, NGS analysis in our cohort indicated that familial cases were more easily diagnosed rather than sporadic cases, and also that combining massive sequencing with detailed clinical information and family studies increases the likelihood to reach a molecular diagnosis. Among positive patients, we could expand clinical and allelic information in a subgroup of genes offering original description of new mutations and corroborating genetic findings with functional investigations that took advantage of different in vitro or in vivo platforms. In particular, through functional studies in SPG7 knock-down models of Drosophila melanogaster, we remarked that SPG7, whose mutations cause spastic paraplegia type 7, has a critical role in neurons more than in skeletal muscle. The high frequency of p.Ala510Val mutation in SPG7 observed in our cohort as well in similar studies performed elsewhere moved us to develop a humanized knock-in fruit fly model harboring that specific mutation and prepare preliminary characterizations. Similar studies in fruit fly were performed silencing AFG3L2, the gene causing SPAX5 in a child in association with an unusual, relatively milder phenotype. Furthermore, combination of skin fibroblasts and Saccharomyces cerevisiae as models was employed in the genetic characterization of new mutations in a novel recessive HARS-related phenotype whereas primary human cells, yeast and Danio rerio models were used to functionally characterize new HA-related mutations in COQ4. Finally, we could expand the clinical presentation of rare causes of HAs describing new dominant mutations in STUB1 and biallelic variants in RFN216, COQ8A, and ATP13A2. Altogether, studies performed during this doctoral work further underlined the usefulness of NGS in HAs and highlighted how NGS technologies rely on the integrated use of family and clinical studies and different in vitro/in vivo platforms to substantiate molecular findings. The latter platform will be also a tool for future investigations to dissect pathogenesis and to improve therapies.
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Books on the topic "AFG3L2"

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P, Anderson G., and U.S. Air Force Geophysics Laboratory. Optical Physics Division, eds. AFGL atmospheric constituent profiles (0-120km). Hanscom AFB, MA: Optical Physics Division, Air Force Geophysics Laboratory, 1986.

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Iliff, Robert L. The AFGL absolute gravity system's error budget revisited. Hanscom AFB, MA: Earth Sciences Division, Air Force Geophysics Laboratory, 1985.

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Iliff, Robert L. The AFGL absolute gravity system's error budget revisited. Hanscom AFB, MA: Earth Sciences Division, Air Force Geophysics Laboratory, 1985.

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Knecht, David J. Daily magnetograms for 1979 from the AFGL network. Hanscom AFB, MA: Space Physics Division, Air Force Geophysics Laboratory, 1985.

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Iliff, Robert L. The AFGL absolute gravity system's error budget revisited. Hanscom AFB, MA: Earth Sciences Division, Air Force Geophysics Laboratory, 1985.

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Scharine, Kirchoff, and U.S. Air Force Geophysics Laboratory., eds. Design of the AFGL prototype long baseline tiltmeter. Hanscom, AFB, MA: Earth Sciences Division, Air Force Geophysics Laboratory, 1985.

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Knecht, David J. Daily magnetograms for 1979 from the AFGL network. Hanscom AFB, MA: Space Physics Division, Air Force Geophysics Laboratory, 1985.

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Scharine, Kirchoff, and U.S. Air Force Geophysics Laboratory., eds. Design of the AFGL prototype long baseline tiltmeter. Hanscom, AFB, MA: Earth Sciences Division, Air Force Geophysics Laboratory, 1985.

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Knecht, David J. Daily magnetograms for 1982 from the AFGL network. Hanscom AFB, MA: Space Physics Division, Air Force Geophysics Laboratory, 1985.

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Knecht, David J. Daily magnetograms for 1981 from the AFGL network. Hanscom AFB, MA: Space Physics Division, Air Force Geophysics Laboratory, 1985.

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Book chapters on the topic "AFG3L2"

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Hora, Joseph L., Lynne K. Deutsch, William F. Hoffmann, and Giovanni G. Fazio. "The Mid-Infrared Structure of the Bipolar Nebulae AFGL 915, AFGL 618, and AFGL 2688." In Circumstellar Matter 1994, 361–64. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0147-9_61.

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Molster, F. J., L. B. F. M. Waters, J. Th van Loon, T. De Jong, J. Bouwman, L. B. F. M. Waters, I. Yamamura, et al. "ISO’s View on AFGL 4106." In Astrophysics and Space Science, 469–75. Dordrecht: Springer Netherlands, 1998. http://dx.doi.org/10.1007/978-94-011-5076-7_78.

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Hora, Joseph L., and Klaus-Werner Hodapp. "Near-Infrared Spectroscopy of the Planetary Nebulae M 2–9 and AFGL 2688." In Infrared Astronomy with Arrays, 517–18. Dordrecht: Springer Netherlands, 1994. http://dx.doi.org/10.1007/978-94-011-1070-9_155.

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Johnston, Katharine G., Henrik Beuther, Hendrik Linz, P. Boley, Thomas P. Robitaille, E. Keto, K. Wood, and R. van Boekel. "The Interplay Between Molecular and Ionised Gas Surrounding the Massive Embedded Star AFGL 4176." In The Labyrinth of Star Formation, 413–14. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-03041-8_80.

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Goddi, C., L. Moscadelli, W. Alef, and J. Brand. "EVN Observations of H2O Masers Towards the High-Mass Young Stellar Object in AFGL 5142." In Dense Molecular Gas Around Protostars and in Galactic Nuclei, 77–81. Dordrecht: Springer Netherlands, 2005. http://dx.doi.org/10.1007/1-4020-3831-3_9.

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Meixner, M., M. T. Campbell, W. J. Welch, L. Likkel, and M. Tafalla. "Core-Halo Structures in the 12CO Emission of CIT 6, AFGL 618 and IRAS 21282+5050." In Planetary Nebulae, 359. Dordrecht: Springer Netherlands, 1997. http://dx.doi.org/10.1007/978-94-011-5244-0_170.

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Hawkins, G. W., C. J. Skinner, M. M. Meixner, J. R. Graham, J. G. Jernigan, J. F. Arens, and E. Keto. "10 µm Images of Two Proto-Planetary Nebulae with Cold IRAS Colors: HD 161796 and AFGL 2343." In Infrared Astronomy with Arrays, 203–6. Dordrecht: Springer Netherlands, 1994. http://dx.doi.org/10.1007/978-94-011-1070-9_68.

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Il’in, Alex E. "The Interpretation of Observations of Ice and Silicate Ir Features and Polarization Across It in the Spectra of Protostellar Objects BN and AFGL 2591." In Circumstellar Matter 1994, 233. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0147-9_40.

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"AFGL 915, IRAS 06176-1036." In Encyclopedia of Astrobiology, 57. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-662-44185-5_100036.

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Goody, R. M., and Y. L. Yung. "Vibration-Rotation Spectra of Gaseous Molecules." In Atmospheric Radiation. Oxford University Press, 1989. http://dx.doi.org/10.1093/oso/9780195051346.003.0005.

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In this chapter we discuss the characteristics of absorption by gaseous constituents of the earth’s atmosphere. This is a complex topic and atmospheric investigators may be disturbed by the idea that weather and climate might be affected by details of the kind we shall discuss. But, as yet, we lack criteria as to what is important and what is not, leaving little alternative to developing a general understanding of the field. A full description of the atmospheric absorption spectrum involves the intensities, state dependence, and detailed line profiles of 105 to 106 lines of 20 or more different chemical species. Given the capabilities of modern computers, it is possible to store, retrieve, and manipulate such data and this is the method of choice for purposes such as the identification of lines in high-resolution spectra. One of a number of current attempts to assemble an up-to-date archive of molecular data is the Air Force Geophysics Laboratory (AFGL) magnetic tape. Not only does this tape provide an economical means of access to the best data from a vast literature, but it also provides a convenient international standard atmosphere. Two numerical climate models, both using the AFGL data, cannot attribute their differences to the radiation data employed. We shall, therefore, address the subject of molecular spectroscopy in the general context of the AFGL tape and many of our illustrations are composed from the tape in preference to seeking out observed spectra. As will be apparent by the end of this chapter, it may sometimes take an expert to distinguish between the two. Figure 3.1 offers an overview of the atmospheric absorption spectrum. The six gases considered are the most important radiators, although climate studies often involve more and rarer species. All six gases are minor species (and therefore in dilute mixtures with nitrogen and oxygen) and are very simple molecules (methane is the most complex). Figure 3.1 shows no visible or ultraviolet spectra. The missing features are mainly electronic bands of oxygen and ozone; they will not be treated in this chapter since they are more complex theoretically but easier to handle empirically than the bands shown in Fig. 3.1.
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Conference papers on the topic "AFG3L2"

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Sipler, D. P., C. R. Philbrick, B. E. Dix, and M. E. Gardner. "LIDAR Atmospheric Measurements at AFGL." In Optical Remote Sensing. Washington, D.C.: Optica Publishing Group, 1985. http://dx.doi.org/10.1364/ors.1985.wc19.

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MICHEL, H. "The AFGL vibro-acoustic measurement system." In Shuttle Environment and Operations II Conference. Reston, Virigina: American Institute of Aeronautics and Astronautics, 1985. http://dx.doi.org/10.2514/6.1985-7014.

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Isaacs, Ronald G., Shepard A. Clough, Robert D. Worsham, and Vincent J. Falcone. "The Enhanced AFGL RADTRAN Transmittance/Brightness Temperature Computer Code." In SPIE 1989 Technical Symposium on Aerospace Sensing, edited by Norman S. Kopeika and Walter B. Miller. SPIE, 1989. http://dx.doi.org/10.1117/12.960877.

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Alejandro, S. B., and D. R. Fitzgerald. "Air Force Geophysics Laboratory’s (AFGL) Mobile CO2 Doppler Lidar." In Optical Remote Sensing. Washington, D.C.: Optica Publishing Group, 1985. http://dx.doi.org/10.1364/ors.1985.wc14.

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AFGL is developing a mobile coherent, pulsed, Doppler CO2 lidar system designed to evaluate techniques for the acquisition and real-time interpretation of atmospheric wind field structure as well as aerosol attenuation and concentrations over long path lengths . The system utilizes a low chirp electron beam injection CO2 TEA laser which is mode locked by hole injection from a Littrow grating tuned low pressure flowing gas cw CO2 laser . An identical low pressure laser is used as the local oscillator . The entire optical assembly is mounted upon a 3.7m × 8.3m optical table, with the exception of the scanner which is mounted over the table on an elevator system . The scanner system is raised through a hatch in the trailer roof and is capable of full hemispherical and fixed point scanning. The return signal is detected in the usual superheterodyne technique by a Hg:Cd:Te detector. The system IF amplifier output will be split to allow simultaneous real time analog display of velocity as a function of range and digital conversion for obtaining power, velocity, and variance characteristics of the signal. A schematic of the system is shown in figure 1 and the system design parameters are given in Table 1. The entire lidar system along with field operations support equipment will be housed in a modified 12m semi trailer.
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Blatherwick, R. D., F. H. Murcray, F. J. Murcray, D. G. Murcray, G. A. Vanasse, and M. Hoke. "Recent Infrared Emission Measurements of Predawn N2O5 Over New Mexico." In Optical Remote Sensing of the Atmosphere. Washington, D.C.: Optica Publishing Group, 1990. http://dx.doi.org/10.1364/orsa.1990.wd8.

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Data obtained with the AFGL SCRIBE system (Stratospheric CRyogenic Interferometer Balloon Experiment) during a balloon flight in July, 1984 were recently used to perform the first post-dawn morning measurement of N2O5 [1].
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Hummel, John R., Kurt A. Kebchull, Donald E. Bedo, and Robert A. Swirbalus. "Inversion Techniques for Backscatter Data from Remote Sensing Systems." In Laser and Optical Remote Sensing: Instrumentation and Techniques. Washington, D.C.: Optica Publishing Group, 1987. http://dx.doi.org/10.1364/lors.1987.tuc23.

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An examination of inversion techniques applicable to bakscatter data from remote sensing systems has been made. The purpose of the study was to develop an inversion technique that could be used with remote sensing systems under development at the Air Force Geophysics Laboratory (AFGL).
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LeVan, Paul D., and Gregory Sloan. "Invited Paper Calibration And Data Reduction Techniques For The AFGL Astronomical Infrared Array Spectrometer." In 31st Annual Technical Symposium, edited by Irving J. Spiro. SPIE, 1987. http://dx.doi.org/10.1117/12.941820.

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Esplin, Mark P., and Michael Hoke. "Hot Bands of Carbon Dioxide in the 15 Micron Region." In High Resolution Fourier Transform Spectroscopy. Washington, D.C.: Optica Publishing Group, 1989. http://dx.doi.org/10.1364/hrfts.1989.mb5.

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The Air Force Geophysics Laboratory (AFGL) high resolution Michelson interferometer has been used to make measurement of the spectrum of CO2 in the 15 µm region. The infrared spectrum of a linear molecule like CO2 is composed of vibrational bands made up of many nearly equally spaced rotation lines. At high temperatures there is a great deal of overlapping of these bands. This overlapping causes the line density in the experimental spectrum to be very high. Since the band systems are spread over hundreds of wavenumbers, a Michelson interferometer with its capability of high resolution over wide spectral ranges is well suited to high temperature measurements.
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Kachelmyer, A. L., R. E. Knowlden, and W. E. Keicher. "Atmospheric Distortion of Wideband Carbon Dioxide Laser Waveforms." In Coherent Laser Radar. Washington, D.C.: Optica Publishing Group, 1987. http://dx.doi.org/10.1364/clr.1987.wc3.

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The performance of wideband carbon dioxide laser waveforms is severely reduced by absorption and anomalous dispersion caused by atmospheric carbon dioxide. This paper deals with modeling and analyzing these atmospheric distortion effects. The latest version of the Air Force Geophysics Laboratory (AFGL) FASCODE program is used to perform some CO2 laser line atmospheric transmittance calculations. Data from these transmittance calculations are then used to develop a two-way path model of the amplitude and phase distortion for a given transmit/receive path. The matched filter response to wideband signals is used to illustrate the net effect of this atmospheric absorption and dispersion. Results are presented which include the effect of relative motion (Doppler shift) between the transmitter and the receiver.
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Walker, Philip L. "Forward scattering correction for light transmission through desert aerosols." In OSA Annual Meeting. Washington, D.C.: Optica Publishing Group, 1988. http://dx.doi.org/10.1364/oam.1988.ww2.

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Desert aerosol size distribution measurements taken at China Lake, CA, along with a wind-blown dust model from AFGL indicate that desert dust consists of three lognormally distributed modes. The smallest, composed of combustion products, peaks at a diameter of 0.1 μm. An intermediate mode, composed of dust, peaks at 0.6 μm, the largest particles being 10 μm. These modes are wind speed independent. The largest particle mode peaks at 10 μm depending on wind speed. Attenuation for these aerosols may not follow Beer’s law for short wavelengths because of forward scattering generated by the larger particles. This work ascertains those conditions for which forward scattering is important by computing an effective extinction coefficient for a 1-km path over the spectral range of 0.4–12 μm as a function of wind speed and visibility and graphically comparing it to the Mie computed extinction coefficient.
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Reports on the topic "AFG3L2"

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Tashker, Jessica S. Regulation of Apoptosis by AFG3L2, a Potential Oncogene. Fort Belvoir, VA: Defense Technical Information Center, August 2002. http://dx.doi.org/10.21236/ada412697.

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Schafer, Zachary. Regulation of Apoptosis by AFG3L2, a Potential Oncogene. Fort Belvoir, VA: Defense Technical Information Center, August 2005. http://dx.doi.org/10.21236/ada466558.

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Hanser, Frederick A. Analyze Data from CRRES Payloads AFGL-7O1-2/Dosimeter and AFGL-701-4/HEEF. Fort Belvoir, VA: Defense Technical Information Center, July 1995. http://dx.doi.org/10.21236/ada300569.

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Berends, J. C., R. C. Eppig, and J. T. Riley. UV Spectrometer System AFGL 801 A HUP. Fort Belvoir, VA: Defense Technical Information Center, May 1989. http://dx.doi.org/10.21236/ada217805.

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Parkerson, Victor R. AFGL (Air Force Geophysics Laboratory) Balloon Telemetry Facility. Fort Belvoir, VA: Defense Technical Information Center, August 1986. http://dx.doi.org/10.21236/ada208858.

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Louis, J. F., R. N. Hoffman, T. Nehrkorn, T. Baldwin, and M. Mickelson. Baseline Observing System Experiments Using the AFGL Global Data Assimilation System. Fort Belvoir, VA: Defense Technical Information Center, November 1987. http://dx.doi.org/10.21236/ada188861.

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Spillar, E. J. Ground-Based Infrared Observations of Sources Discovered by the AFGL, FIRRSE and IRAS Infrared Surveys. Fort Belvoir, VA: Defense Technical Information Center, June 1988. http://dx.doi.org/10.21236/ada206335.

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Li, S. W. Receiver System Control Development for the AFGL High Latitude Meteor Scatter Test Bed in Greenland. Fort Belvoir, VA: Defense Technical Information Center, September 1988. http://dx.doi.org/10.21236/ada220333.

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Moskowitz, Warren P., and Gilbert Davidson. Program to Increase the Measurement Capabilities of the AFGL (Air Force Geophysics Laboratory) Fixed and Mobile High Altitude Lidar Systems. Fort Belvoir, VA: Defense Technical Information Center, March 1988. http://dx.doi.org/10.21236/ada194614.

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