Results 91 to 100 of about 3,943 (193)

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
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Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype [PDF]

, 2013
BACKGROUND: Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis.
Cliften, Paul, Cole, F. Sessions, Kornfeld, Stuart, van Meel, Eline, Wegner, Daniel J, White, Frances V, Willing, Marcia C   +6 more
core   +2 more sources

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]

, 2016
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
Cardinale, A, Cutarelli, A, D'Arcangelo, G, Frank, C, Grossi, D, Merlo, D, Racaniello, M, Rufini, S, Tancredi, V, Zaratti, A   +9 more
core   +4 more sources

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

犬の神経セロイドリポフスチン症およびGM1ガングリオシドーシスの分子疫学研究 [PDF]

, 2022
鹿児島大学博士(獣医学)博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨doctoral ...
141310, Shahnjn, Pervin, シャハナズ, パルビン   +2 more
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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

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Caciotti, Anna, Cooper, David N., Deodato, Federica, Gasperini, Serena, Guerrini, Renzo, Morrone, Amelia, Mort, Matthew, Parenti, Giancarlo, Parini, Rossella, Rigoldi, Miriam, Sibilio, Michelina, Taurisano, Roberta, Tonin, Rodolfo   +12 more
core   +4 more sources

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