Results 71 to 80 of about 7,809 (216)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [PDF]

, 2012
BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin,
Clewing, JM, Gormley, AK, Hendson, G, Mayfield, C, Morimoto, M, Najafian, B, Saraiva, JM, Stenzel, P, Weinkauf, JG, Yu, Z   +9 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

Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis

Neurobiology of Disease, 2020
The favorable outcome of in vivo and ex vivo gene therapy approaches in several Lysosomal Storage Diseases suggests that these treatment strategies might equally benefit GM2 gangliosidosis.
Francesca Ornaghi, Davide Sala, Fabiana Tedeschi, Maria Chiara Maffia, Martina Bazzucchi, Francesco Morena, Manuela Valsecchi, Massimo Aureli, Sabata Martino, Angela Gritti   +9 more
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

β-Galactosidase Deficiency in Colombia

Journal of Inborn Errors of Metabolism and Screening, 2015
β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS)
Alfredo Uribe PhD, Adis Ayala MSc, Monica España MSc, Isidro Arevalo MSc, Natalia Pacheco MSc, Lina M. Jay Garcia MSc   +5 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

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports, Volume 66, Issue 4, July 2025.
Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan   +9 more
wiley   +1 more source

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis

Clinical and Translational Science
GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
doaj   +1 more source