Results 91 to 100 of about 16,402 (224)

Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour [PDF]

, 2016
The five-subunit WASH complex generates actin networks that participate in endocytic trafficking, migration and invasion in various cell types. Loss of one of the two subunits WASH or strumpellin in mice is lethal, but little is known about their role in
Insall, Robert H., Machesky, Laura M., Spence, Heather J., Strathdee, Douglas, Tyrrell, Benjamin J., Woodham, Emma F.   +5 more
core   +1 more source

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

Survey of Human Mitochondrial Diseases Using New Genomic/Proteomic Tools [PDF]

, 2001
BACKGROUND. We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and characterizing the context of protein mutations that give rise to human ...
Mohr, Scott C., Plasterer, Thomas N., Smith, Temple F.   +2 more
core   +2 more sources

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

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia [PDF]

, 2017
De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
Auranen, Mari, Cooper, Helen, Euro, Liliya, Isohanni, Pirjo, Kaakkola, Seppo, Khairullin, Rafil, Lin, Kai-Lan, Lin, Kai-Lan, Lönnqvist, Tuula, Trokovic, Ras, Tyynismaa, Henna, Wanrooij, Sjoerd, Woldegebriel, Rosa, Wolf, Alexander, Yang, Yang, Ylikallio, Emil   +15 more
core   +1 more source

Editorial Comment: Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases [PDF]

, 2022
Tiffany Y. So
openalex   +1 more source

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview [PDF]

, 2021
Liena E. O. Elsayed, Isra Eltazi, Ammar Ahmed, Giovanni Stévanin   +3 more
openalex   +1 more source

Mutilating hereditary sensory neuropathy with spastic paraplegia [PDF]

, 2020
INSERM
openalex   +1 more source

Identification of the Drosophila melanogaster homolog of the human spastin gene [PDF]

, 2018
The human SPG4 locus encodes the spastin gene, which is responsible for the most prevalent form of autosomal dominant hereditary spastic paraplegia (AD-HSP), a neurodegenerative disorder.
Burgunder, Jean-Marc, Kammermeier, Lars, Reichert, Heinrich, Spring, Jürg, Stierwald, Michael   +4 more
core  

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

NeuroImage: Clinical, 2018
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected.
Ingrid Faber, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Jr., Melina Pazian Martins, Charles Marques Lourenço, Wilson Marques, Jr., Celeste Montecchiani, Antonio Orlacchio, Jose Luiz Pedroso, Orlando Graziani Povoas Barsottini, Íscia Lopes-Cendes, Marcondes Cavalcante França, Jr.   +12 more
doaj   +1 more source