REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaMembrane-shaping disorders: a common pathway in axon degenerationThe spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsyDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyREEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacityClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyA spastic paraplegia mouse model reveals REEP1-dependent ER shaping.Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature reviewMutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic ParaplegiaExome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Modeling mitochondrial function and its role in disease.Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes.A conserved amphipathic helix is required for membrane tubule formation by Yop1pSpastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESSIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.REEPing the benefits of an animal model of hereditary spastic paraplegiaReticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons.ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.Metabolic Reprogramming in Amyotrophic Lateral Sclerosis.New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
P2860
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P2860
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@en
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@nl
type
label
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@en
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@nl
prefLabel
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@en
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@nl
P2093
P2860
P50
P356
P1433
P1476
REEP1 mutations in SPG31: freq ...... morpho-functional dysfunction.
@en
P2093
Amir Boukhris
Anne-Marie Ouvrard-Hernandez
Bertrand Fontaine
Christel Depienne
Christelle Dussert
Cyril Goizet
Cécile Cazeneuve
Elisabeth Ollagnon-Roman
Emeline Mundwiller
Eric Leguern
P2860
P304
P356
10.1002/HUMU.21542
P50
P577
2011-09-09T00:00:00Z