Results 21 to 30 of about 929 (148)
Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]
J Inherit Metab DisAbstract 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 ...
Ludlaim AM, Waddington SN, McKay TR.
europepmc +2 more sources
Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk
Movement Disorders, Volume 37, Issue 6, Page 1202-1210, June 2022., 2022 Abstract Background To date, variants in the GBA gene represent the most frequent large‐effect genetic factor associated with Parkinson's disease (PD). However, the reason why individuals with the same GBA variant may or may not develop neurodegeneration and PD is still unclear.
Letizia Straniero +18 more
wiley +1 more source
Metabolomics of neurological disorders in India
Analytical Science Advances, Volume 2, Issue 11-12, Page 594-610, December 2021., 2021 Abstract Metabolomics is the comprehensive study of the metabolome and its alterations within biological fluids and tissues. Over the years, applications of metabolomics have been explored in several areas, including personalised medicine in diseases, metabolome‐wide association studies (MWAS), pharmacometabolomics and in combination with other ...
Sangeetha Gupta, Uma Sharma
wiley +1 more source
PLoS ONE, 2022 Isomeric lysosphingolipids, galactosylsphingosine (GalSph) and glucosylsphingosine (GlcSph), are present in only minute levels in healthy cells. Due to defects in their lysosomal hydrolysis, they accumulate at high levels and cause cytotoxicity in ...
Kamilla Stahl-Meyer +7 more
doaj +3 more sources
Screening for Sphingolipid-Storage Diseases
Pediatric Neurology Briefs, 1999 A simple fluorescence assay was used to detect cells from patients with sphingolipidoses in a masked study at the Mayo Clinic, Rochester, MN.
J Gordon Millichap
doaj +1 more source
Disease Models & Mechanisms, 2017 Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machinery ...
Julia Sellin +10 more
doaj +1 more source
Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
Frontiers in Molecular Biosciences, 2021 Background: Lysosomal storage diseases (LSDs) are caused by a mutation in a specific gene. Enzymatic dysfunction results in a progressive storage of substrates that gradually affects lysosomal, cellular and tissue physiology.
Daniela Vuolo +3 more
doaj +1 more source
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?
Molecular Genetics and Metabolism Reports, 2017 Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process.
J. Politei +5 more
doaj +1 more source
Molecules, 2020 Pharmacological chaperones (PCs) are small compounds able to rescue the activity of mutated lysosomal enzymes when used at subinhibitory concentrations.
Maria Giulia Davighi +6 more
doaj +1 more source