Results 121 to 130 of about 21,283 (267)

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia [PDF]

, 2018
Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the
Allison, R, Arning, L, Beetz, C, Depienne, C, Durr, A, Edgar, JR, Frahm, C, Goldberg, L, Kohl, Z, Lumb, JH, Manna, PT, Newton, T, Nygren, AOH, Reid, E, Rizo, T, Rodger, CE, Schöls, L, Schüle, R, Stevanin, G, Winner, B   +19 more
core   +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, Joana Paes de Faria, Olaf Jahn, Ege Bilgin, Nikola Łukasik, Chethana Rao, Mišo Mitkovski, Fritz Benseler, Nils Brose, Sophie B. Siems, Sandra Goebbels, Wiebke Möbius, Helge Ewers, João B. Relvas, Hauke B. Werner   +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, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype. The clinical development programme of pegzilarginase, a recombinant human ARG1 enzyme therapy, provides
Mattias Rudebeck, Nancy Braverman, Richard Chang, Gregory M. Enns, Arunabha Ghosh, Magali Gorce, Daniela Karall, Reena Sharma, Emily Shelkowitz, Roberto Zori, Markey McNutt   +10 more
wiley   +1 more source

Severe axonal neuropathy is a late manifestation of SPG11 [PDF]

, 2016
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal recessive manner. In the past, complex recessive spastic paraplegias have been frequently associated with SPG11 mutations but ...
Berardo, A, Chelban, V, Hamed, SA, Haridy, NA, Houlden, H, Manole, A, Reilly, MM   +6 more
core   +1 more source

The endoplasmic reticulum in mitochondrial protein targeting: A neuronal perspective on organelle crosstalk

Protein Science, Volume 35, Issue 3, March 2026.
Abstract Neurons depend on tightly regulated spatial proteostasis to maintain function across their extended morphology. The endoplasmic reticulum (ER), traditionally known for its function in protein synthesis, folding, and trafficking, has long been recognized as a central platform for directing proteins to organelles of the secretory and endocytic ...
J. Tabitha Hees, Angelika B. Harbauer
wiley   +1 more source

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, Borner, Georg, Hirst, J, Itzhak, Daniel, Robinson, Margaret   +4 more
core   +3 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 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, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong   +7 more
doaj   +1 more source

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

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, Qiao Wei, Hai‐Lin Dong, Yang‐Tian Yan, Mei‐Jiao Chen, Hong‐Fu Li   +5 more
doaj   +1 more source