Results 31 to 40 of about 929 (148)

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

EMBO Molecular Medicine, 2020
Acid sphingomyelinase deficiency (ASMD) leads to cellular accumulation of sphingomyelin (SM), neurodegeneration, and early death. Here, we describe the downregulation of the endocannabinoid (eCB) system in neurons of ASM knockout (ASM‐KO) mice and a ASMD
Adrián Bartoll, Ana Toledano‐Zaragoza, Josefina Casas, Manuel Guzmán, Edward H Schuchman, María Dolores Ledesma   +5 more
doaj   +1 more source

Electrocardiographic Changes and Arrhythmia in Fabry Disease

Frontiers in Cardiovascular Medicine, 2016
Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme alpha-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (
Mehdi eNamdar
doaj   +1 more source

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

Frontiers in Pediatrics, 2020
Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the majority of cases.
Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace   +5 more
doaj   +1 more source

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

Frontiers in Pharmacology
Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency due to genetic variations in the GBA1 gene leading to the toxic accumulation of sphingolipids in various organs, which causes symptoms such as anemia, thrombocytopenia,
Feda E. Mohamed, Feda E. Mohamed, Fatma Al-Jasmi, Fatma Al-Jasmi, Fatma Al-Jasmi   +4 more
doaj   +1 more source

Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease

Neurobiology of Disease, 2018
Krabbe disease (KD), or globoid cell leukodystrophy, is an inherited lysosomal storage disease with leukodystrophy caused by a mutation in the galactosylceramidase (GALC) gene.
Naoko Inamura, Momoko Kito, Shinji Go, Soichiro Kishi, Masanori Hosokawa, Kiyofumi Asai, Nobuyuki Takakura, Hirohide Takebayashi, Junko Matsuda, Yasushi Enokido   +9 more
doaj   +1 more source

The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population

Frontiers in Aging Neuroscience, 2021
Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkinson’s disease (PD) at the genetic, biochemical, and cellular pathway levels.
Yu-wen Zhao, Yu-wen Zhao, Hong-xu Pan, Hong-xu Pan, Zhenhua Liu, Yige Wang, Qian Zeng, Zheng-huan Fang, Teng-fei Luo, Kun Xu, Zheng Wang, Xun Zhou, Runcheng He, Bin Li, Guihu Zhao, Qian Xu, Qi-ying Sun, Xin-xiang Yan, Jie-qiong Tan, Jin-chen Li, Jin-chen Li, Jin-chen Li, Ji-feng Guo, Ji-feng Guo, Ji-feng Guo, Ji-feng Guo, Bei-sha Tang, Bei-sha Tang, Bei-sha Tang, Bei-sha Tang   +29 more
doaj   +1 more source

Sphingolipidoses and Retinal Involvement: A Comprehensive Review

Applied Sciences
Sphingolipidoses are a class of inherited lysosomal storage diseases, characterized by enzymatic deficiencies that impair sphingolipid degradation. This enzymatic malfunction results in the pathological accumulation of sphingolipids within lysosomes ...
Chiara Carrozzi, Daniele Fumi, Davide Fasciolo, Federico Di Tizio, Serena Fragiotta, Mariachiara Di Pippo, Solmaz Abdolrahimzadeh   +6 more
doaj   +1 more source

Glucosylceramide modulates membrane traffic along the endocytic pathway

Journal of Lipid Research, 2002
Glycosphingolipids are endocytosed and targeted to the Golgi apparatus, but are mistargeted to lysosomes in numerous sphingolipidoses. Substrate reduction therapy utilizes imino sugars to inhibit glucosylceramide synthase and potentially abrogate the ...
Dan J. Sillence, Vishwajeet Puri, David L. Marks, Terry D. Butters, Raymond A. Dwek, Richard E. Pagano, Frances M. Platt   +6 more
doaj   +1 more source

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

Apoptosis of Neuro2a cells induced by lysosphingolipids with naturally occurring stereochemical configurations

Journal of Lipid Research, 2001
Lysosphingolipids, which lack the fatty acid moiety of sphingolipids, are known to be accumulated in some variants of sphingolipid storage diseases. Here, we report that lysosphingolipids with naturally occurring stereochemical configurations induce ...
Noriyuki Sueyoshi, Taku Maehara, Makoto Ito   +2 more
doaj   +1 more source