Results 61 to 70 of about 14,087 (142)

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1454-1464, July 2025.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia

CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.
Hereditary spastic paraplegia (HSP) is a group of rare genetic neurodegenerative disorders. This review comprehensively outlines the clinical manifestations, gene expression trajectories, and protein function of HSP subtypes from the perspective of neurodevelopment.
Yiqiang Zhi, Yan Shi, Danping Lu, Dan Xu
wiley   +1 more source

Chronic Psychosocial Stress in Mice Is Associated With Increased Acid Sphingomyelinase Activity in Liver and Serum and With Hepatic C16:0-Ceramide Accumulation

Frontiers in Psychiatry, 2018
Chronic psychosocial stress adversely affects human morbidity and is a risk factor for inflammatory disorders, liver diseases, obesity, metabolic syndrome, and major depressive disorder (MDD).
Martin Reichel, Martin Reichel, Cosima Rhein, Lena M. Hofmann, Juliana Monti, Lukasz Japtok, Dominik Langgartner, Andrea M. Füchsl, Andrea M. Füchsl, Burkhard Kleuser, Erich Gulbins, Claus Hellerbrand, Stefan O. Reber, Johannes Kornhuber   +13 more
doaj   +1 more source

Human genetic defects of sphingolipid synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot, Frédérique Sabourdy, Thierry Levade   +2 more
wiley   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source

RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation

Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa, Malte Kornhuber, Dominic B. Fee   +2 more
wiley   +1 more source

A β‐Glucosyl Sterol Probe for in situ Fluorescent Labelling in Neuronal Cells to Investigate Neurodegenerative Diseases

Chemistry – A European Journal, Volume 30, Issue 41, July 19, 2024.
Aiming at tackling neurodegenerative diseases, the potential effect of β‐glucosyl sterol on neuronal cells is investigated by means of fluorescent labelling of a synthetic derivative. Marked differences in neuron accumulation, metabolism, and impact on the lysosomes with respect to the un‐glycosylated cholesterol derivative were observed.
Giuseppe Borsato, Francesco Carnio, Sara Lunardon, Mattia Moletta, Giulio Pavan, Francesca Terrin, Alessandro Scarso, Nicoletta Plotegher, Fabrizio Fabris   +8 more
wiley   +1 more source

Sinbaglustat ameliorates disease pathology in a murine model of GM1 gangliosidosis without affecting CNS ganglioside levels

Neurobiology of Disease
Sinbaglustat is a brain-penetrating small molecule that inhibits the non-lysosomal glucocerebrosidase (GBA2) and, with lower potency, glucosylceramide synthase (GCS). Sinbaglustat has passed clinical phase I.
Rouven Wannemacher, Lorna Jubran-Rudolf, Isabel Zdora, Eva Leitzen, Karl Rohn, Virginie Sippel, Christoph Paschen, Peter Blattmann, Wolfgang Baumgärtner, Ingo Gerhauser, Michel Alexander Steiner   +10 more
doaj   +1 more source

Variations in rumen microbiota and host genome impacted feed efficiency in goat breeds

Frontiers in Microbiology
IntroductionImproving feed efficiency (FE) is a significant goal in animal breeding programs. Variations in FE and its relationship with rumen microbiota remain poorly understood across different goat breeds.MethodsThis study assessed the influence of ...
Alaa Emara Rabee, Ibrahim Abou-souliman, Ahmed I. Yousif, Mebarek Lamara, Mohamed A. El-Sherbieny, Eman Ali Elwakeel, Ahmed M. Sallam   +6 more
doaj   +1 more source

The role of GBA2 in controlling locomotor activity

, 2018
Glycosphingolipide sind Hauptbestandteile zellulärer Membranen und erfüllen sowohl strukturelle als auch funktionelle Aufgaben. Modifizierungen des einfachen Glycosphingolipids Glucosylceramid (GlcCer) bringen zahlreiche komplexe glycosylierte und sialylierte Glycosphingolipide hervor, die besonders im zentralen Nervensystem (ZNS) vorkommen.
openaire   +2 more sources