Results 41 to 50 of about 3,943 (193)

GM1 gangliosidosis (type 1) in a cat [PDF]

Biochemical Journal, 1986
A kitten with clinical and morphological symptoms of a neurovisceral lysosomal-storage disease has been shown to have a marked deficiency of acidic beta-D-galactosidase in the brain, kidney and spleen. Chromatography on concanavalin A-Sepharose and inhibition studies with 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine, a selective inhibitor of the ...
C G, Barker, W F, Blakemore, A, Dell, A C, Palmer, P R, Tiller, B G, Winchester   +5 more
openaire   +2 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells

Data in Brief, 2016
GM1-gangliosidosis is an inherited autosomal recessive disorder caused by mutations in the gene GLB1, which encodes acid β-galactosidase (β-gal). The lack of activity in this lysosomal enzyme leads to accumulation of GM1 gangliosides (GM1) in cells.
Walter Acosta, Reid Martin, David N. Radin, Carole L. Cramer   +3 more
doaj   +1 more source

Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation

Stem Cell Research
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling,
Jingyun Guan, Chunhong Duan, Yuqiang Lv, Haiyan Zhang, Guohua Liu, Yi Liu   +5 more
doaj   +1 more source

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

Annals of Movement Disorders, 2019
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad, Lulup K Sahoo, Jitender Saini, Pramod K Pal   +3 more
doaj   +1 more source

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency [PDF]

, 2021
INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).
Al Khouri, M, Alembik, Y, Arnoux, J-B, Baruteau, J, Bekri, S, Brassier, A, Brehin, A-C, Busa, T, Caillaud, C, Cano, A, Chabrol, B, Coubes, C, Coutant, S, Dabaj, I, Desguerre, I, Doco-Fenzy, M, Domitille, L, Dranguet, H, Drenou, B, Elcioglu, NH, Elsayed, S, Fouilhoux, A, Froissart, R, Goldenberg, A, Heron, B, Jouvencel, P, Kuster, A, Labarthe, F, Lazaro, L, Levade, T, Marret, S, Pichard, S, Poirsier, C, Rivera, S, Roche, S, Roggerone, S, Roubertie, A, Saugier-Veber, P, Sigaudy, S, Snanoudj, S, Spodenkiewicz, M, Sudrié-Arnaud, B, Tardieu, M, Tebani, A, Torre, S, Vanhulle, C, Vergnaud, S   +46 more
core  

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

Autophagy in Lysosomal Storage Disorders [PDF]

, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea, Lieberman, Andrew P., Puertollano, Rosa, Raben, Nina, Slaugenhaupt, Susan Ann, Walkley, Steven U.   +5 more
core   +1 more source

NCLs and ER: A stressful relationship. [PDF]

, 2017
The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments.
Marotta, D, Mole, SE, Tinelli, E
core   +1 more source

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