Results 31 to 40 of about 2,424 (142)

GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots

Indian Journal of Dermatology, 2011
A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be
Imad Dweikat, Bassam Abu Libdeh, Hanadi Murrar, Samir Khalil, Nizar Maraqa   +4 more
doaj   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]

J Inherit Metab Dis
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Casazza K, Giugliani R, Regier DS, Jarnes J.   +3 more
europepmc   +2 more sources

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts. [PDF]

Orphanet J Rare Dis
Background Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease ...
Lewis CJ, Johnston JM, Zaragoza Domingo S, Vezina G, D'Souza P, Gahl WA, Adams DA, Tifft CJ, Acosta MT.   +8 more
europepmc   +2 more sources

GM1 - gangliosidosis in a Nigerian infant: A case report

Nigerian Journal of Paediatrics, 2021
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina, Idris W Hafsat Hafsat, Sadiku A Halima, Abubakar El - ishaq   +3 more
doaj  

Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain

Journal of Lipid Research, 2011
Filipin is an antibiotic polyene widely used as a histochemical marker for cholesterol. We previously reported cholesterol/filipin-positive staining in brain of β-galactosidase (β-gal) knockout (−/−) mice (GM1 gangliosidosis).
Julian R. Arthur, Karie A. Heinecke, Thomas N. Seyfried   +2 more
doaj   +1 more source

Serial MRI Features of Canine GM1 Gangliosidosis: A Possible Imaging Biomarker for Diagnosis and Progression of the Disease

The Scientific World Journal, 2012
GM1 gangliosidosis is a fatal neurodegenerative lysosomal storage disease caused by an autosomal recessively inherited deficiency of β-galactosidase activity. Effective therapies need to be developed to treat the disease.
Daisuke Hasegawa, Osamu Yamato, Yuya Nakamoto, Tsuyoshi Ozawa, Akira Yabuki, Kazuhito Itamoto, Takayuki Kuwabara, Michio Fujita, Kimimasa Takahashi, Shunta Mizoguchi, Hiromitsu Orima   +10 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

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Molecular Genetics & Genomic Medicine, 2020
Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and ...
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano   +15 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

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