Results 41 to 50 of about 9,234 (203)

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

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates

Molecular Therapy: Methods & Clinical Development, 2022
GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predominantly in
Michaël Hocquemiller, Laura Giersch, Xin Mei, Amanda L. Gross, Ashley N. Randle, Heather L. Gray-Edwards, Judith A. Hudson, Sophia Todeasa, Lorelei Stoica, Douglas R. Martin, Miguel Sena-Esteves, Karen Aiach, Ralph Laufer   +12 more
doaj   +1 more source

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

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis [PDF]

, 2013
GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000–1:200,000 live births worldwide. Here we review GLB1 mutations
Vairo, Filippo, Mayer, Fabiana Quoos, Giugliani, Roberto, Burin, Maira, Matte, Ursula, Sperb, Fernanda   +5 more
core   +1 more source

Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis : possible use for assessment of a therapeutic regimen [PDF]

, 2007
The present study investigated cerebrospinal fluid (CSF) biomarkers for estimating degeneration of the central nervous system (CNS) in experimental dogs with GM1 gangliosidosis and preliminarily evaluated the efficacy of long-term glucocorticoid therapy ...
Maede, Yoshimitsu, Satoh, Hiroyuki, Arai, Toshiro, Yonemura, Madoka, Yamauchi, Toyofumi, Yamato, Osamu, Orima, Hiromitsu, Yamasaki, Masahiro, Hasegawa, Daisuke, Asano, Tomoya   +9 more
core   +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

Brain β-Galactosidase and Gm1 Gangliosidosis [PDF]

Pediatric Research, 1974
Extract: Several properties of β-galactosidase obtained from brains of controls and patients with Gm1 gangliosidosis types I and II were studied. The pH optimum of β-galactosidase was 4 in both fetal and control brain. In contrast, the pH optimum of brain β-galactosidase in patients with either type I or type II Gm1 gangliosidosis was 3. The residual β-
L, Chou, C I, Kaye, H L, Nadler
openaire   +2 more sources

Neurofilament Light Chain (Nfl) Level in Serum as a Suitable In Vivo Biomarker for Axonal Damage in a Murine Viral Model of Multiple Sclerosis

Journal of Cellular and Molecular Medicine, Volume 30, Issue 15, August 2026.
ABSTRACT Neurofilament light chain (Nfl) is a protein of the cytoskeleton predominantly found in large calibre myelinated axons and a suitable in vivo biomarker for monitoring neurodegenerative processes. Axonal damage results in Nfl release into the cerebrospinal fluid and the blood stream.
A. Segna, R. Wannemacher, K. Rohn, V. Sippel, M. A. Steiner, F. Lühder, A. Flügel, W. Baumgärtner, K. Hülskötter   +8 more
wiley   +1 more source