anti-Receptor Accessory Protein 1 (REEP1) Antikörper

Human Receptor Accessory Protein 1 (REEP1) Interaktionspartner

1. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients

2. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.

3. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.

4. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.

5. Expression of the REEP1/REEP2 (zeige REEP2 Antikörper) subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.

6. REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.

7. A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.

8. Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1

9. Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.

10. previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia

Mouse (Murine) Receptor Accessory Protein 1 (REEP1) Interaktionspartner

1. REEP1 co-immunoprecipitates with seipin (zeige BSCL2 Antikörper) in cells. This strengthens the link between alterations in reticulum morphogenesis and lipid abnormalities, with important pathogenic implications for the most common forms of Hereditary spastic paraplegias.

2. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.