Log in

Relevant bibliographies by topics / Globotriaosylceramide accumulation

Contents

Journal articles
Dissertations / Theses
Books
Book chapters

Academic literature on the topic 'Globotriaosylceramide accumulation'

Author: Grafiati

Published: 4 June 2021

Last updated: 10 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Globotriaosylceramide accumulation.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Globotriaosylceramide accumulation"

1

Li, S. C., S. K. Kundu, R. Degasperi, and Y. T. Li. "Accumulation of globotriaosylceramide in a case of leiomyosarcoma." Biochemical Journal 240, no. 3 (December 15, 1986): 925–27. http://dx.doi.org/10.1042/bj2400925.

Full text

Abstract:

Analysis of the glycosphingolipid composition in one case of uterine leiomyosarcoma metastasized to the liver showed an accumulation of globotriaosylceramide as compared with normal liver and uterus from which the tumour originated. The structure and the amount of glycosphingolipids were established by using specific glycosidases, permethylation analysis and h.p.l.c. The reason for the accumulation of globotriaosylceramide in leiomyosarcoma remains to be answered.

APA, Harvard, Vancouver, ISO, and other styles

2

Taguchi, Atsumi, Hiroki Maruyama, Masaaki Nameta, Tadashi Yamamoto, Junichiro Matsuda, Ashok B. Kulkarni, Hidekatsu Yoshioka, and Satoshi Ishii. "A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis." Biochemical Journal 456, no. 3 (November 22, 2013): 373–83. http://dx.doi.org/10.1042/bj20130825.

Full text

Abstract:

A symptomatic mouse model was generated by inducing globotriaosylceramide synthesis. Globotriaosylceramide accumulation is a primary pathogenic factor in the symptomatic phenotype. The new mouse model is useful for studying the pathogenesis of Fabry disease and therapeutic approaches.

APA, Harvard, Vancouver, ISO, and other styles

3

Mutsuga, Mayu, Yoshiji Asaoka, Yuko Togashi, Naoko Imura, Tomoya Miyoshi, and Yohei Miyamoto. "Spontaneous Accumulation of Globotriaosylceramide (Gb3) in Proximal Renal Tubules in an ICR Mouse." Journal of Toxicologic Pathology 26, no. 4 (2013): 429–32. http://dx.doi.org/10.1293/tox.2013-0029.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Ogawa, Kiyoko, Kumiko Sugamata, Noriaki Funamoto, Toshiaki Abe, Tomohide Sato, Kazuo Nagashima, and Shin-Ichiro Ohkawa. "Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease." Human Pathology 21, no. 10 (October 1990): 1067–73. http://dx.doi.org/10.1016/0046-8177(90)90258-7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Najafian, Behzad, Camilla Tøndel, Einar Svarstad, Marie-Claire Gubler, João-Paulo Oliveira, and Michael Mauer. "Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss." Journal of the American Society of Nephrology 31, no. 4 (March 3, 2020): 865–75. http://dx.doi.org/10.1681/asn.2019050497.

Full text

Abstract:

BackgroundIn males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A lead to accumulation of globotriaosylceramide (GL3) in various cell types. In the glomerular podocytes, accumulation of GL3 progresses with age. Of concern, podocytes are relatively resistant to enzyme replacement therapy and are poorly replicating, with little ability to compensate for cell loss.MethodsIn this study of 55 males (mean age 27 years) with classic Fabry disease genotype and/or phenotype, we performed unbiased quantitative morphometric electron microscopic studies of biopsied kidney samples from patients and seven living transplant donors (to serve as controls). We extracted clinical information from medical records and clinical trial databases.ResultsPodocyte GL3 volume fraction (proportion of podocyte cytoplasm occupied by GL3) increased with age up to about age 27, suggesting that increasing podocyte GL3 volume fraction beyond a threshold may compromise survival of these cells. GL3 accumulation was associated with podocyte injury and loss, as evidenced by increased foot process width (a generally accepted structural marker of podocyte stress and injury) and with decreased podocyte number density per glomerular volume. Worsening podocyte structural parameters (increasing podocyte GL3 volume fraction and foot process width) was also associated with increasing urinary protein excretion—a strong prognosticator of adverse renal outcomes in Fabry disease—as well as with decreasing GFR.ConclusionsGiven the known association between podocyte loss and irreversible FSGS and global glomerulosclerosis, this study points to an important role for podocyte injury and loss in the progression of Fabry nephropathy and indicates a need for therapeutic intervention before critical podocyte loss occurs.

APA, Harvard, Vancouver, ISO, and other styles

6

Najafian, Behzad, Einar Svarstad, Leif Bostad, Marie-Claire Gubler, Camilla Tøndel, Chester Whitley, and Michael Mauer. "Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease." Kidney International 79, no. 6 (March 2011): 663–70. http://dx.doi.org/10.1038/ki.2010.484.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Tsukimura, Takahiro, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, and Tadayasu Togawa. "Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?" Molecular Genetics and Metabolism Reports 28 (September 2021): 100773. http://dx.doi.org/10.1016/j.ymgmr.2021.100773.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Kelash, Fnu, Lara Kujtan, and Padmaja V. Mallidi. "Acroparesthesia in a Female: Diagnostic Dilemma." Case Reports in Medicine 2014 (2014): 1–2. http://dx.doi.org/10.1155/2014/172197.

Full text

Abstract:

Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. The disease affects nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems leads to renal and heart failure; debilitating pain as a result of nervous system involvement also occurs.

APA, Harvard, Vancouver, ISO, and other styles

9

Shu, Liming, and James A. Shayman. "Caveolin-associated Accumulation of Globotriaosylceramide in the Vascular Endothelium of α-Galactosidase A Null Mice." Journal of Biological Chemistry 282, no. 29 (May 29, 2007): 20960–67. http://dx.doi.org/10.1074/jbc.m702436200.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Thurberg, Beth L., Helmut Rennke, Robert B. Colvin, Steven Dikman, Ronald E. Gordon, A. Bernard Collins, Robert J. Desnick, and Michael O'Callaghan. "Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy." Kidney International 62, no. 6 (December 2002): 1933–46. http://dx.doi.org/10.1046/j.1523-1755.2002.00675.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

More sources

Dissertations / Theses on the topic "Globotriaosylceramide accumulation"

1

Heare, Tanya. "Characterisation and treatment of a mouse model of Fabry disease." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275482.

Full text

APA, Harvard, Vancouver, ISO, and other styles

Books on the topic "Globotriaosylceramide accumulation"

1

Waldek, Stephen. Fabry disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0337.

Full text

Abstract:

Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which causes a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. Painful peripheral (‘acral’) neuropathy is characteristic.Key clinical signs are angiokeratoma found by close examination of skin; characteristic eye lesions may be seen; lipid deposits may be seen in urine. Renal biopsy appearances are characteristic and this is commonly where the diagnosis is first made. Increasingly, cardiologists are suspecting the condition in adults with echocardiographic appearances of left ventricular hypertrophy. Diagnosis in men is usually made by measurement of alpha-galactosidase in either white cells or plasma (or using blood spots). Unfortunately, many female patients can have normal enzyme levels so that genetic testing is the only way to confirm a diagnosis. Non-selective screening strategies (e.g. males on renal replacement therapy with uncertain renal diagnoses) have had low yields.

APA, Harvard, Vancouver, ISO, and other styles

2

Waldek, Stephen. Fabry disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0335_update_001.

Full text

Abstract:

Fabry disease is a rare X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the lysosomal acid hydrolase enzyme, alpha-galactosidase A. The resulting accumulation of substrate, mostly globotriaosylceramide, leads to a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. It is one of over 50 lysosomal storage diseases. It is typically diagnosed in young men after many years of ‘acral pain’ syndrome, when the diagnosis is made through identification of characteristic abnormalities of skin, kidney or heart, or of other organs. Renal failure has been a common outcome. Females may also develop manifestations, usually later in life. Renal biopsy shows vacuoles/deposits in podocytes and other renal cell types with progressive scarring. The diagnosis can be made by measuring enzyme levels in men, or by genetic testing. This latter is the more reliable test in women. Fabry disease can now be treated where affordable by regular (every 2 weeks) intravenous infusions of recombinant preparations of the deficient enzyme. These are burdensome and expensive, but are transforming the outlook for the condition.

APA, Harvard, Vancouver, ISO, and other styles

3

Waldek, Stephen. Fabry disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0336.

Full text

Abstract:

Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which causes a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, gut, and nervous system. Painful peripheral (‘acral’) neuropathy is characteristic. The disease is commonly diagnosed in children and young men often after some years of usually neuropathic symptoms, with exacerbations (Fabry crises), that commonly elude diagnosis for a long time. These usually occur years in advance of overt involvement of other organs. Diagnosis may also be suspected from renal biopsy, echocardiographic evidence of cardiomyopathy commonly beginning as left ventricular hypertrophy, or characteristic angiokeratomas typically in ‘bathing trunk’ distribution on skin. Renal manifestations are of proteinuria leading to progressive chronic kidney disease associated with deposits in podocytes. Diarrhoea is common. Disordered sweating is typical. Corneal lesions are also typical and there may be tortuosity of retinal vessels. Strokes are increased in frequency, and sensorineural deafness may occur. Women have fewer and later overt manifestations but some develop severe disease.

APA, Harvard, Vancouver, ISO, and other styles

4

Waldek, Stephen. Fabry disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0338_update_001.

Full text

Abstract:

Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide (Gb3), which causes a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. Painful peripheral (‘acral’) neuropathy is characteristic. Proteinuria and estimated glomerular filtration rate (eGFR) are strongly associated with risk of progression, but this may be reduced by treatment with angiotensin-converting enzyme inhibitors as well as by enzyme replacement therapy (ERT). ERT was approved in 2001; it improves pain and other neuropathic symptoms, and well-being, and has been proven to clear deposits of Gb3 from tissues, at variable speeds. There is limited randomized controlled trial data but protective effects have been proven for renal outcomes, death, and better outcomes in some other organ systems. Renal function may be protected if ERT is commenced before there is heavy proteinuria or substantial loss of GFR. It is recommended to start ERT as soon as the diagnosis is made in those with very low or absent enzyme. For those with intermediate levels it is recommended to commence treatment only when signs or symptoms appear. Proteinuria and eGFR give most information from a renal point of view, but renal biopsy is also useful for confirming the renal diagnosis and staging the disease as well as monitoring progress in selected cases. Management should include regular screening for complications including myocardial and neurological assessments. It is likely that registries will show progressive rises in median survival with this condition.

APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Globotriaosylceramide accumulation"

1

Kåks, Ida, and Peter Magnusson. "Fabry Disease." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.99142.

Full text

Abstract:

Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of the enzyme α-galactosidas A leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. The condition is rare, approximately 1:50,000, although underdiagnosis seems frequent. The condition can affect multiple organ systems, including the skin, nervous system, kidneys, and heart. Early manifestations include skin lesions (angiokeratoma), neuropathic pain, and gastrointestinal symptoms. Later on, FD can result in cardiomyopathy, kidney failure, and stroke. Both lifespan and health-related quality of life are affected negatively by FD. Patients are divided into a classical or a non-classical phenotype based on presentation, where the diagnosis of classical FD requires that a set of specific criteria are met. Patients with non-classical FD often have a less severe disease course, sometimes limited to one organ. The hereditary pattern is X-linked. Thus, men are in general more severely affected than women, although there is an overlap in symptomatic burden. Two types of specific treatment options are available: enzyme replacement therapy and pharmacological chaperone therapy. In addition to this, management of each organ manifestation with usual treatment is indicated.

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!