Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 - Wikidata - thesis-toulmin - TriplyDB

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

http://www.wikidata.org/entity/Q24669559

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia A class of dynamin-like GTPases involved in the generation of the tubular ER network The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Membrane-shaping disorders: a common pathway in axon degeneration The 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 palsy Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Arl6IP1 has the ability to shape the mammalian ER membrane in a reticulon-like fashion Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders Cell biology. Metabolic control of cell death REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity MicroRNAs: history, biogenesis, and their evolving role in animal development and disease Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.A 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 review Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates SNPs in microRNA target sites and their potential role in human disease Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.MicroRNA polymorphisms: a giant leap towards personalized medicine.Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia Demonstrating polymorphic miRNA-mediated gene regulation in vivo: application to the g+6223G->A mutation of Texel sheep.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy Integrated multi-cohort transcriptional meta-analysis of neurodegenerative diseases.Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.Fusing a lasting relationship between ER tubules.A conserved amphipathic helix is required for membrane tubule formation by Yop1p Spastin binds to lipid droplets and affects lipid metabolism.

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

http://www.wikidata.org/entity/Q24669559

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2006 nî lūn-bûn

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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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American Journal of Human Genetics

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Mutations in the novel mitocho ...... ary spastic paraplegia type 31

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Gaofeng Wang

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Khanh-Nhat Tran-Viet

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Martha A Nance

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Perry C Gaskell

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P2860

Microarray analysis of microRNA expression in the developing mammalian brain

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

RTP family members induce functional expression of mammalian odorant receptors

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Identification of many microRNAs that copurify with polyribosomes in mammalian neurons

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

MicroRNAs: genomics, biogenesis, mechanism, and function

Specificity of microRNA target selection in translational repression

The hereditary spastic paraplegias.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

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Margaret A. Pericak-Vance

Jeffery M. Vance

Stephan Züchner

Allison Ashley-Koch

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16826527

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