Results 81 to 90 of about 9,234 (203)

Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry

, 2011
The concentration of GM1 (monosialotetrahexosyl ganglioside) in cerebrospinal fluid (CSF) is markedly increased in dogs with GM1 gangliosidosis due to GM1 accumulation in the central nervous system and leakage to the CSF.
Hiroyuki Satoh, Akira Yabuki, Yoshimitsu Maede, Masahiro Yamasaki, Hye-Sook Chang, Osamu Yamato, Toyofumi Yamauchi, Taketoshi Asanuma   +7 more
core   +1 more source

Neuroimaging findings in late infantile GM1 gangliosidosis.

, 1998
Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly.
Chen, C Y, Lee, C C, Chen, F H, Hsiao, H S, Yuh, Y S, Zimmerman, R A   +5 more
core   +1 more source

A METHOD FOR TREATMENT OF GM1 GANGLIOSIDOSIS

, 2015
The present invention relates to a method for preparing a GM1 gangliosidosis human cell model based on induced pluripotent stem cells (iPSCs) and iPSCs originated neural progenitor cells, and a use of the GM1 model above for the development of a GM1 ...
곽재은, 전혜진, 손미영, 조이숙, 설빛나   +4 more
core  

Studies on the Occurence of Ectopic Glycolipids in Brains with GM1-gangliosidosis and Tay-Sachs Disease [PDF]

, 1989
It has been demonstrated that glycolipids of the globo-and ganglioseries accumulate in brains with GM1-gangliosidosis and Tay-Sachs disease （T-S dis.）, although they are not detected in differentiated normal brains and cannot be explained by ...
舘, 睦子
core   +1 more source

GM1-ganglioside degradation and biosynthesis in human and murine GM1-gangliosidosis

, 2005
Background: Gangliosides are building blocks of cell membranes and their biosynthesis and degradation have been extensively studied in the past. Regulation of the metabolism of these glycolipids controls fundamental cell functions.
Sano, Renata, Giugliani, Roberto, Vieira, Matheus Barbosa, D'Azzo, Alessandra, Trindade, Vera Maria Treis, Tessitore, Alessandra, Coelho, Janice Carneiro   +6 more
core   +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

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.

, 2009
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly.
M. DI ROCCO, DE GRANDIS, ELISA, A. ROSSI, VENESELLI, EDVIGE MARIA, A. PESSAGNO   +4 more
core   +1 more source

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

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

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