Results 11 to 20 of about 2,653 (156)

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Reports
GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues.
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
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Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis [PDF]

Molecular Genetics and Metabolism Reports
GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1
Iskren Menkovic, Monika Williams, Neelam Makhijani, Ruhan Wei, Sarah P. Young, Areeg El-Gharbawy, Ashlee R. Stiles   +6 more
doaj   +2 more sources

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

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
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Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model [PDF]

Cell Reports
Summary: Endoplasmic reticulum-plasma membrane (ER-PM) junctions mediate Ca2+ flux across neuronal membranes. The properties of these membrane contact sites are defined by their lipid content, but little attention has been given to glycosphingolipids ...
Jason A. Weesner, Ida Annunziata, Diantha van de Vlekkert, Camenzind G. Robinson, Yvan Campos, Ashutosh Mishra, Leigh E. Fremuth, Elida Gomero, Huimin Hu, Alessandra d’Azzo   +9 more
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AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates [PDF]

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
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A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis [PDF]

NeuroSci
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible
Connor J. Lewis, Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar, Anna Luisa Kühn, Ahmet Peker, Zubir S. Rentiya, Muhammad H. Yousef, William A. Gahl, Mohammed Salman Shazeeb, Cynthia J. Tifft, Maria T. Acosta   +13 more
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Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis [PDF]

Molecules, 2022
GM1 gangliosidosis is a rare lysosomal disease caused by the deficiency of the enzyme β-galactosidase (β-Gal; GLB1; E.C. 3.2.1.23), responsible for the hydrolysis of terminal β-galactosyl residues from GM1 ganglioside, glycoproteins, and ...
Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona   +8 more
doaj   +2 more sources

Adeno-associated virus expressing a blood-brain barrier–penetrating enzyme improves GM1 gangliosidosis in a preclinical model [PDF]

The Journal of Clinical Investigation
GM1 gangliosidosis is a lysosomal storage disorder (LSD) caused by genetic defects in lysosomal β-galactosidase (β-gal). The primary substrate of β-gal is GM1 ganglioside (GM1), a sialylated glycosphingolipid abundant in the central nervous system (CNS).
Saki Kondo Matsushima, Yohta Shimada, Masafumi Kinoshita, Takashi Nagashima, Shinichiro Okamoto, Sayoko Iizuka, Haruna Takagi, Shunsuke Iizuka, Takashi Higuchi, Hiroyuki Hioki, Ayako M. Watabe, Hiroyuki Sonoda, Toya Ohashi, Hiroshi Kobayashi   +13 more
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Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C [PDF]

Biomedicines, 2022
Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions.
Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone   +8 more
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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 Journal of Rare Diseases
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 ...
Connor J. Lewis, Jean M. Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D’Souza, William A. Gahl, David A. Adams, Cynthia J. Tifft, Maria T. Acosta   +8 more
doaj   +2 more sources