Results 31 to 40 of about 2,653 (156)

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

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

GM1 gangliosidosis: Case report

Medicinski pregled, 2010
Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, Jasmina Djindjic   +5 more
openaire   +3 more sources

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

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Gut microbiota shifts and short‐chain fatty acids alterations in pediatric epilepsy patients on a Mediterranean ketogenic diet

Epileptic Disorders, Volume 28, Issue 4, Page 1159-1174, August 2026.
Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Sofia Zouganeli, Evdokia K. Mitsou, Mary Yannakoulia, Evangelia Intze, Konstantinos C. Mountzouris, Smaragdi Fessatou, Achilleas Attilakos, Adamantini Kyriacou, Argyrios Dinopoulos   +8 more
wiley   +1 more source

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis

Molecular Genetics and Metabolism Reports, 2019
GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside.
Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft   +8 more
doaj   +1 more source