Results 91 to 100 of about 4,207 (192)
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
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Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis [PDF]
, 2021 GM1-gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase β-galactosidase (β-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration and eventually ...
Carlson, Timothy W +10 more
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Neurobiology of DiseaseSinbaglustat is a brain-penetrating small molecule that inhibits the non-lysosomal glucocerebrosidase (GBA2) and, with lower potency, glucosylceramide synthase (GCS). Sinbaglustat has passed clinical phase I.
Rouven Wannemacher +10 more
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Population analysis of the GLB1 gene in South Brazil
Genetics and Molecular Biology, 2011 Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country ...
Cléia Baiotto +6 more
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Una propuesta de la biología de sistemas para el estudio de enfermedades raras [PDF]
, 2010 El grupo de Bases Moleculares de la Proliferación Celular de la Universidad de Málaga estudia patologías muy poco convencionales. Su poca incidencia en la población, menos de cinco casos por cada diez mil habitantes, las convierten hoy en un gran reto ...
Sanchez-Jimenez, Francisca Maria
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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [PDF]
, 2012 BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin,
Clewing, JM +9 more
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Lysosomal storage diseases [PDF]
, 2017 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
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Minimally invasive routes of AAV administration to treat GM1 gangliosidosis [PDF]
, 2020 GM1 gangliosidosis is a lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (βgal), which results in the accumulation of GM1 ganglioside and fatal neurodegeneration.
Gross, Amanda
core
Stem Cell ResearchGM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates.
Allisandra K. Rha +5 more
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