Results 61 to 70 of about 9,234 (203)

GM1-generalized gangliosidosis variant with cardiomegaly [PDF]

Postgraduate Medical Journal, 1976
SummaryA female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance.
P F, Benson, A, Barbarik, S P, Brown, T P, Mann   +3 more
openaire   +2 more sources

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

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
doaj   +1 more source

Sphingolipids in Emotional Well‐Being

Journal of Neurochemistry, Volume 170, Issue 2, February 2026.
Sphingolipids are essential constituents of neuronal membranes and are increasingly recognized as contributors to the key behavioral manifestations associated with emotional well‐being. ABSTRACT Emotional well‐being is a multifactorial concept, which comprises not only life quality of human individuals, but also their mental and physical health.
L. S. Kalinichenko, I. Zoicas, C. Mühle, J. Kornhuber, C. P. Müller   +4 more
wiley   +1 more source

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient

, 2023
International audienceGanglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene.
Damaj, Lena, Cluzeau, Laurence, Goujon, L., Jaillard, S., Goujon, Louise, Leclerc, D., Cluzeau, L., Dubourg, C., Guillory, Xavier, Dreano, S., Jaillard, Sylvie, Levade, T., Odent, S., Froissart, R., Damaj, L., Dreano, Stéphane, Eriksson, Leif, A., Etcheverry, Amandine, Guillory, X., Mouriaux, F., Nouyou, Bénédicte, Dubourg, Christèle, Froissart, Roseline, Gilot, David, Launay, Erika, Odent, Sylvie, Eriksson, Leif A,, Belaud-Rotureau, Marc-Antoine, Mouriaux, F, Etcheverry, A., Belaud-Rotureau, M. A., Launay, E., Gilot, D., Leclerc, Delphine, Levade, Thierry, Nouyou, B.   +35 more
core   +1 more source

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings [PDF]

, 2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000–1:200,000 live births worldwide.
Serena Gasperini, Scarpa, Maurizio, Alessandro Simonati, Akinci, Gulcin, Cristina Cereda, Morrone, Amelia, Gulcin Akinci, Anna Caciotti, Adele d'Amico, Elena Procopio, Enrico Bertini, Catarzi, Serena, Rivera-Colón, Yadilette, Paola Martelli, Garman, Scott C., Michela Sibilio, Carmen Guido, d'Azzo, Alessandra, Scott C. Garman, Roberta Battini, Maurizio Scarpa, Donati, Maria Alice, Federica Ciani, Ferri, Lorenzo, Serena Catarzi, Deodato, Francesca, Bertini, Enrico, Sibilio, Michela, Rossella Parini, Alessandro Salviati, Daniela Antuzzi, Cynthia J. Tifft, Filocamo, Mirella, Lorenzo Ferri, Gasperini, Serena, Fontana, Elena, Battini, Roberta, Caciotti, Anna, Amelia Morrone, Dionisi-Vici, Carlo, Mirella Filocamo, Maja di Rocco, Ciani, Federica, Elena Fontana, di Rocco, Maja, d'Amico, Adele, Antuzzi, Daniela, Cereda, Cristina, Elisabetta Pasquini, Francesca Deodato, Procopio, Elena, Maria Alice Donati, Pasquini, Elisabetta, Carlo Dionisi-Vici, Yadilette Rivera-Colón, Renzo Guerrini, Parini, Rossella, Guerrini, Renzo, Guido, Carmen, Salviati, Alessandro, Simonati, Alessandro, Martelli, Paola, Tifft, Cynthia J., Alessandra d'Azzo   +63 more
core   +1 more source

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

, 2005
GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients.
Billette de Villemeur, T., Roze, E., Yoshida, K., Galanaud, Damien, Lopez, N., Roubergue, A., Caillaud, C., Vidailhet, M., Doummar, Diane, Eck, T., Paschke, E., Maurel-Ollivier, A.   +11 more
core   +1 more source

Infantile Gangliosidosis

Pediatric Neurology Briefs, 1988
Three sisters with infantile-onset 3 GM1 gangliosidosis are reported from the University of Siens, Italy, and the University of Louvain, Brussels, Belgium.
J Gordon Millichap
doaj   +1 more source

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

Molecular Therapy: Methods & Clinical Development, 2017
GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at >5.7 years of
Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin   +9 more
doaj   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source