The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample [PDF]
, 2018 X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far.
Aubourg, Patrick +6 more
core
Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance [PDF]
, 2006 In contrast to peroxisomes in normal cells, remnant peroxisomes in cultured skin fibroblasts from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifunctional
Bjorkman, Jonas +3 more
core +2 more sources
Adeno-associated virus and lentivirus vectors: a refined toolkit for the central nervous system. [PDF]
, 2016 The last two decades have witnessed the increasing instrumentalization of viruses, which have progressively evolved into highly potent gene transfer vehicles for a wide spectrum of applications.
Blessing, D., Déglon, N.
core +1 more source
Klotho pathways, myelination disorders, neurodegenerative diseases, and epigenetic drugs [PDF]
, 2020 In this review we outline a rationale for identifying neuroprotectants aimed at inducing endogenous Klotho activity and expression, which is epigenetic action, by definition. Such an approach should promote remyelination and/or stimulate myelin repair by
Chen, Xiaohong +15 more
core +1 more source
Advanced Materials, Volume 38, Issue 22, 17 April 2026.Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode +16 more
wiley +1 more source
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]
, 2017 : Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller +25 more
core +1 more source
Small Molecule‐Based Conditional Gene Regulation: Advances and Applications
Chemistry–Methods, Volume 6, Issue 4, April 2026.The precise, temporal, and reversible control of gene expression using small molecule ligands is crucial for understanding complex cellular functions and is rapidly advancing the field of synthetic biology. Small molecule‐mediated conditional gene regulation has widespread applications, including bio‐manufacturing, cellular reprogramming, gene therapy,
Mohd Afaque Ansari +3 more
wiley +1 more source
The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: Differences between normal controls and children with the Zellweger syndrome [PDF]
, 2010 Background Docosahexaenoic acid (DHA, 22:6ω3) is a fundamental component of cell membranes, especially in the brain and retina. In the experimental animal, DHA deficiency leads to suboptimal neurological performance and visual deficiencies. Children with
Manuela Martinez +5 more
core +1 more source