Results 81 to 90 of about 16,402 (224)
Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval [PDF]
, 2018 The AP-5 adaptor protein complex is presumed to function in membrane traffic, but so far nothing is known about its pathway or its cargo. We have used CRISPR-Cas9 to knock out the AP-5 ζ subunit gene, AP5Z1, in HeLa cells, and then analysed the phenotype
Antrobus, Robin +4 more
core +3 more sources
Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
wiley +1 more source
CDC42‐Effector Proteins Regulate Higher Order Structure of Septins Required for CNS Myelin Integrity
Glia, Volume 74, Issue 3, March 2026.CDC42‐effector proteins 1/2 are present in CNS myelin. They facilitate the higher order structure of myelin septin filaments. Their loss impairs septin‐dependent scaffolding of myelin. Myelin outfoldings do not cause secondary neuropathology per se. ABSTRACT The regular structure of CNS myelin requires specialized structural proteins, including septin ...
Sophie Hümmert +14 more
wiley +1 more source
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]
, 2016 Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E +9 more
core +4 more sources
Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica +8 more
wiley +1 more source
The Investigation of Genetic and Clinical Features in Patients with Hereditary Spastic Paraplegia in Central-Southern China [PDF]
, 2020 Chen Wang +5 more
openalex +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 108-121, January 2026.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model
Disease Models & Mechanisms, 2017 The S113R mutation (c.339T>G) (MIM #603690.0001) in SLC33A1 (MIM #603690), an ER membrane acetyl-CoA transporter, has been previously identified in individuals with hereditary spastic paraplegia type 42 (SPG42; MIM #612539).
Pingting Liu +7 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background X‐linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long‐chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1.
Wen‐Jiao Luo +5 more
doaj +1 more source
Advanced Science, Volume 13, Issue 2, 9 January 2026.REEP1 contributes to endoplasmic reticulum (ER) shaping. Variants either cause cortical motoneuron degeneration and hereditary spastic paraplegia (HSP) or spinal motoneuron degeneration and distal hereditary motor neuropathy (dHMN). Knockout causes less complex ER structures and cortical motoneuron loss.
Andrea Bock +25 more
wiley +1 more source