Filtered By:
Procedure: Skin Biopsy
This page shows you your search results in order of relevance. This is page number 5.
Order by Relevance | Date
Total 64 results found since Jan 2013.
Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells
CONCLUSIONS: Our studies demonstrate that the MELAS iPSC-derived disease models are powerful tools for dissecting the molecular mechanisms by which mitochondrial DNA alterations influence RPE function in aging and macular degeneration, and for testing novel therapeutics in patients harboring the MELAS genotype.PMID:35715869 | DOI:10.1186/s13287-022-02937-6
Source: Cell Research - June 17, 2022 Category: Cytology Authors: Sujoy Bhattacharya Jinggang Yin Weihong Huo Edward Chaum Source Type: research
Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
AbstractFabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type. We here describe the clinical characteristics of a patient with late-onset Fabry disease carrying a not previously identified GLA gene variant. This 50-year-old ma...
Source: Metabolic Brain Disease - September 30, 2022 Category: Neurology Source Type: research
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
In conclusion, this familiar case demonstrated the wide range of phenotypic variability in DADA2. The search for ADA2 mutations and the assessment of ADA2 activity should be considered also in patients with the association of hypogammaglobulinemia and inflammatory conditions, also with late presentation and in absence of vasculitis. Furthermore, the clinical picture of the deceased carrier suggests a possible contribution of heterozygous pathogenic variants to inflammation.
Source: Frontiers in Immunology - May 3, 2023 Category: Allergy & Immunology Source Type: research
