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This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
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we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
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Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
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Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
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Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
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REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.
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A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.
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Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
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Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
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previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
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Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.
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Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
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RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression.
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REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.
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Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients.
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Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations
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Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1.
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A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP.
