Results 91 to 100 of about 4,196 (206)

Lysosomal Storage Disease

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
doaj   +1 more source

Sinbaglustat ameliorates disease pathology in a murine model of GM1 gangliosidosis without affecting CNS ganglioside levels

Neurobiology of Disease
Sinbaglustat 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, Lorna Jubran-Rudolf, Isabel Zdora, Eva Leitzen, Karl Rohn, Virginie Sippel, Christoph Paschen, Peter Blattmann, Wolfgang Baumgärtner, Ingo Gerhauser, Michel Alexander Steiner   +10 more
doaj   +1 more source

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, Fernanda Sperb, Ursula Matte, Cláudia Dornelles da Silva, Renata Sano, Janice Carneiro Coelho, Roberto Giugliani   +6 more
doaj   +1 more source

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
core   +1 more source

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
core   +2 more sources

Unravelling the tangle of genetic testing : part 2 [PDF]

, 2007
Apart from the DNA sequences that can be translated into the corresponding protein, the gene contains or is related to other sequences that control its function and expression.
Scerri, Christian A.
core  

GM1ガングリオシドーシスモデルマウス新生仔を用いた中枢神経系への経静脈的遺伝子導入の試み [PDF]

博士(医学 ...
高浦, 奈津子
core  

Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing

Stem Cell Research
GM1 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, Chloe L. Christensen, Shih-Hsin Kan, Jerry F. Harb, Perla Andrade-Heckman, Raymond Y. Wang   +5 more
doaj   +1 more source

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  

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources