Results 31 to 40 of about 9,234 (203)

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content [PDF]

, 2019
GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis.
Pavone, F. S., Ricci, Silvia, Morrone, Amelia, Caciotti, Anna, Tonin, Rodolfo, Mangone, Giusi, Ricci, S., Casini, Arianna, Ardissone, Anna, Caciotti, A., Procopio, Elena, Calamai, Martino, Marangi, Antonio, Di Rocco, Maja, Morrone, A., Salviati, A., Mancardi, Maria Margherita, Pavone, Francesco Saverio, Parini, Rossella, Guerrini, Renzo, Fischetto, Rita, Deodato, Federica, Salviati, Alessandro, Parini, R., Strisciuglio, Pietro, Fiumara, Agata, Tonin, R., Guerrini, R., Calamai, M.   +28 more
core   +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

Studies on Heterogeneity in GM1-Gangliosidosis [PDF]

, 1980
The activity of GM1-β-galactosidase in leukocytes and in lymphoblastoid cell lines transformed by Epstein-Barr virus, from five patients with reduced β-galactosidase activity and their parents, was assayed with GM1-ganglioside tritiated in the terminal ...
菊地, 浩一
core   +1 more source

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan

Animals, 2022
GM1 gangliosidosis is a progressive, recessive, autosomal, neurodegenerative, lysosomal storage disorder that affects the brain and multiple systemic organs due to an acid β-galactosidase deficiency encoded by the GLB1 gene.
Shahnaj Pervin, Md Shafiqul Islam, Yamato Yorisada, Aya Sakai, Shimma Masamune, Akira Yabuki, Tofazzal Md Rakib, Shinichiro Maki, Martia Rani Tacharina, Osamu Yamato   +9 more
doaj   +1 more source

Late-infantile GM1 gangliosidosis

Medicine, 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 ...
Eu Seon Noh, Hye Mi Park, Min Sun Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin   +5 more
openaire   +2 more sources

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

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context

EBioMedicine, 2023
Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase.
Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang   +16 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