Results 21 to 30 of about 2,653 (156)

Chitotriosidase as a biomarker for gangliosidoses

Molecular Genetics and Metabolism Reports, 2021
Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes   +2 more
doaj   +1 more source

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Molecular Genetics and Metabolism Reports, 2022
GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel   +10 more
doaj   +1 more source

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy [PDF]

Experimental Biology and Medicine, 2021
Chunhua Zeng, Xiaoling Jiang, Yonglan Huang   +2 more
exaly   +2 more sources

Enzyme-responsive polymersomes ameliorate autophagic failure in a cellular model of GM1 gangliosidosis

Frontiers in Chemical Engineering, 2022
GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of β-galactosidase (βgal) and subsequent accumulation of GM1 ganglioside in lysosomes. One of the pathological aspects of GM1 gangliosidosis, and other storage disorders, is impaired
Bipin Chakravarthy Paruchuri, Sarah Smith, Jessica Larsen, Jessica Larsen   +3 more
doaj   +1 more source

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients [PDF]

Frontiers in Neuroimaging
Mohammed Salman Shazeeb, Cynthia Tifft, Ahmet Peker   +2 more
exaly   +2 more sources

Gangliosidosis gml juvenil como causa de regresión en el neurodesarrollo: reporte de caso

Acta Neurológica Colombiana, 2023
La gangliosidosis GM1 es ocasionada por deficiencia en la actividad catalítica de la enzima lisosomal beta-galacto-sidasa, dando origen a la acumulación del esfingolípido conocido como gangliósido GM1.
Blair Ortiz, Claudia González, Eugenia Espinosa, Johana Guevara, Olga Yanet Echeverri, Luis Barrera   +5 more
doaj   +2 more sources

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

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

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  

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