Results 1 to 10 of about 2,283 (95)

GM1 Gangliosidosis-A Mini-Review. [PDF]

Front Genet, 2021
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in theGLB1gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipid (GSL) GM1-ganglioside in neuronal tissue.
Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM.   +5 more
europepmc   +5 more sources

Late-infantile GM1 gangliosidosis: A case report. [PDF]

Medicine (Baltimore), 2022
Abstract Rationale: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late ...
Noh ES, Park HM, Kim MS, Park HD, Cho SY, Cho SY, Jin DK.   +6 more
europepmc   +3 more sources

GM1 Gangliosidosis: Mechanisms and Management. [PDF]

Appl Clin Genet, 2021
The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the terminal β-1,4-linked galactose residue from GM1 ganglioside.
Rha AK, Maguire AS, Martin DR.
europepmc   +5 more sources

Therapeutic developments for neurodegenerative GM1 gangliosidosis. [PDF]

Front Neurosci
GM1 gangliosidosis (GM1) is a rare but fatal neurodegenerative disease caused by dysfunction or lack of production of lysosomal enzyme, β-galactosidase, leading to accumulation of substrates. The most promising treatments for GM1, include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), stem cell therapy and gene editing.
Foster D, Williams L, Arnold N, Larsen J.   +3 more
europepmc   +4 more sources

GM1 gangliosidosis: Case report

Medicinski pregled, 2010
Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, Jasmina Djindjic   +5 more
openaire   +3 more sources

Peripheral blood findings in GM1 gangliosidosis [PDF]

Blood, 2016
![Figure][1] This peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis.
David T, Lynch, David R, Czuchlewski
openaire   +2 more sources

Brain β-Galactosidase and Gm1 Gangliosidosis [PDF]

Pediatric Research, 1974
Extract: Several properties of β-galactosidase obtained from brains of controls and patients with Gm1 gangliosidosis types I and II were studied. The pH optimum of β-galactosidase was 4 in both fetal and control brain. In contrast, the pH optimum of brain β-galactosidase in patients with either type I or type II Gm1 gangliosidosis was 3. The residual β-
L, Chou, C I, Kaye, H L, Nadler
openaire   +2 more sources

GM1-generalized gangliosidosis variant with cardiomegaly [PDF]

Postgraduate Medical Journal, 1976
SummaryA female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance.
P F, Benson, A, Barbarik, S P, Brown, T P, Mann   +3 more
openaire   +2 more sources

White matter changes in GM1 gangliosidosis

Indian Pediatrics, 2015
GM1 gangliosidosis is a disorder due to GLB1 gene mutation.A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.We highlight the white matter changes in late infantile GM1 gangliosidosis.
Moni, Tuteja, Abdul Mueed, Bidchol, Katta Mohan, Girisha, Shubha, Phadke   +3 more
openaire   +2 more sources

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis. [PDF]

J Lipid Res, 2023
Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL.   +10 more
europepmc   +1 more source