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Artykuły w czasopismach na temat "Lipogranulomatose de Farber"
Sch�fer, A., K. Harzer, E. Kattner, H. J. Sch�fer, G. Stoltenburg i H. Lietz. "Disseminierte Lipogranulomatose (M. Farber) mit Hydrops fetalis". Der Pathologe 17, nr 2 (1.03.1996): 145–49. http://dx.doi.org/10.1007/s002920050148.
Pełny tekst źródłaKim, Y. J., S. J. Park, C. K. Park, S. H. Kim i C. W. Lee. "A case of Farber lipogranulomatosis". Journal of Korean Medical Science 13, nr 1 (1998): 95. http://dx.doi.org/10.3346/jkms.1998.13.1.95.
Pełny tekst źródłaAlamri, Abdullah S., Daniah A. Alshowaeir, Ali A. AlFaiz, Fatimah H. Al Mousawi, Adel A. Mahmoud i Aqeela H. Alhashim. "Optic Nerve Involvement in Farber Lipogranulomatosis". Journal of Neuro-Ophthalmology 39, nr 3 (wrzesień 2019): 391–93. http://dx.doi.org/10.1097/wno.0000000000000795.
Pełny tekst źródłaAmirhakimi, G. H., Parviz Haghighi, M. A. Ghalambor i S. Honari. "Familial Lipogranulomatosis (Farber's disease)". Clinical Genetics 9, nr 6 (23.04.2008): 625–30. http://dx.doi.org/10.1111/j.1399-0004.1976.tb01624.x.
Pełny tekst źródłaHodson, A., i Rosalind Coleman. "Absence seizures in Farber's lipogranulomatosis". Electroencephalography and Clinical Neurophysiology 61, nr 3 (wrzesień 1985): S186. http://dx.doi.org/10.1016/0013-4694(85)90713-8.
Pełny tekst źródłaEviatar, Lydia, Susan L. Sklower, Krystyna Wisniewski, Robert S. Feldman i Aurora Gochoco. "Farber lipogranulomatosis: An unusual presentation in a black child". Pediatric Neurology 2, nr 6 (listopad 1986): 371–74. http://dx.doi.org/10.1016/0887-8994(86)90082-2.
Pełny tekst źródłaBurck, U., H. W. Moser, H. H. Goebel, R. Gr�ttner i K. R. Held. "A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects". European Journal of Pediatrics 143, nr 3 (styczeń 1985): 203–8. http://dx.doi.org/10.1007/bf00442139.
Pełny tekst źródłaKostik, Mikhail M., Irina A. Chikova, Vladislav V. Avramenko, Laly I. Vasyakina, Emmanuelle Le Trionnaire, Vyacheslav G. Chasnyk i Thierry Levade. "Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis". Journal of Inherited Metabolic Disease 36, nr 6 (6.02.2013): 1079–80. http://dx.doi.org/10.1007/s10545-012-9573-z.
Pełny tekst źródłaAsada, Akira, Shigeki Tatekawa, Takekazu Terai, Masanori Hayashi, Masato Hatano, Kazutoshi Ikeshita i Mitsugu Fujimori. "The Anesthetic Implications of a Patient with Farber's Lipogranulomatosis". Anesthesiology 80, nr 1 (1.01.1994): 206–8. http://dx.doi.org/10.1097/00000542-199401000-00028.
Pełny tekst źródłaCHANOKI, M., M. ISHII, K. FUKAI, H. KOBAYASHI, T. HAMADA, K. MURAKAMI i A. TANAKA. "Farber's lipogranulomatosis in siblings: light and electron microscopic studies". British Journal of Dermatology 121, nr 6 (grudzień 1989): 779–85. http://dx.doi.org/10.1111/j.1365-2133.1989.tb08222.x.
Pełny tekst źródłaRozprawy doktorskie na temat "Lipogranulomatose de Farber"
Denard, Jérôme. "Développement d'une approche de thérapie génique pour l'amyotrophie spinale avec épilepsie myoclonique progressive". Electronic Thesis or Diss., université Paris-Saclay, 2023. https://www.biblio.univ-evry.fr/theses/2023/interne/2023UPASL144.pdf.
Pełny tekst źródłaSpinal muscular atrophies are a heterogeneous group of disorders characterized by spinal cord α-motor neuron degeneration, leading muscle weakness and atrophy. The most common form is associated to mutations in the SMN1 gene, for which a gene therapy product obtained marketing approval. Another form of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), is due to mutations in the ASAH1 gene encoding a lysosomal enzyme,the acid ceramidase (ACDase). The life expectancy of patients with SMA-PME does not exceed adolescence. Some mutations in this same gene can cause Farber disease (FD), with the most severe forms causing death of patients before the age of 2 years due to severe multisystemic damage. SMA-PME and FD are ultra-rare lysosomal storage diseases. ACDase catalyzes the bioactive lipid ceramide into sphingosine and fatty acid. Due to the deficiency of enzyme activity, ceramides accumulate inside lysosomes causing serious dysfunctions in several organs. A therapeutic approach based on hematopoietic stem cell transplantation was previously tested in Farber patients but did not prevent neurological deterioration over time. The generation of mouse models of ACDase deficiency, in particular the Asah1P361R/P361R model that recapitulates the signs of Farber disease, has allowed a better understanding of the pathophysiology of acid ceramidase deficiency in tissues and the evaluation of different therapeutic approaches. Enzyme replacement therapy and gene therapy using a lentiviral vector extended the survival of mutant animals by several weeks, but did not correct the neurological signs of the disease. Since there is no curative treatment for patients, the main goal of my thesis project was to develop an efficacious gene therapy approach using an AAV vector. Intravenous administration of an AAV9-ASAH1 vector in Asah1P361R/P361R mice at pre- and symptomatic stages of the disease was able to prolong the lifespan and correct the phenotype. This approach provided proof of concept that generalized restoration of ASAH1 gene expression achieves a therapeutic effect in a severe mouse model of acid ceramidase deficiency. These results prompted us to perform a dose escalation study in Asah1P361R/P361R mice to determine the minimum effective dose of this vector. Three doses of AAV9-ASAH1 were administered intravenously in mutant mice at a late stage of the disease and the effect was analyzed at the clinical, molecular and histological level for a 6-month period. We identified a vector dose able to correct the phenotype and to avoid macrophage infiltrates in tissues, including the central nervous system. Intracerebroventricular administration (ICV) of the AAV9-ASAH1 vector in neonatal mutant mice was also evaluated to investigate the efficacy of this direct route of administration in correcting the neurological signs of the disease. The results show that systemic injection of the AAV9-ASAH1 vector was able to correct the whole-body phenotype of Asah1P361R/P361R mutant mice, whereas preliminary results indicate that ICV administration of the vector is efficacious in preventing mainly the neurological signs of the disease. This thesis work paves the way for clinical translation of this gene therapy in patients with Farber and SMA-PME diseases
Części książek na temat "Lipogranulomatose de Farber"
Desnick, Robert J., Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue i in. "Farber Lipogranulomatosis". W Encyclopedia of Molecular Mechanisms of Disease, 639. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8521.
Pełny tekst źródłaHUSKISSON, E. C., i F. DUDLEY HART. "FARBER'S DISEASE (Disseminated Lipogranulomatosis)". W Joint Disease, 45. Elsevier, 1987. http://dx.doi.org/10.1016/b978-0-7236-0571-3.50088-4.
Pełny tekst źródłaBeck, Michael, Hugo W. Moser i Konrad Sandhoff. "Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis". W Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 547–57. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-12-813955-4.00039-8.
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