Summary— The gene encoding mouse peripherin, a neuronal intermediate filament protein, has been cloned. Its sequence, through 1021 nucleotides composing the 5′‐flanking region, nine exons, eight introns and 547 nucleotides of the 3′‐flanking region, as well as its transcription initiation site have been determined.

In a large Irish pedigree with autosomal dominant retinitis pigmentosa-7 (RP7; 608133), Farrar et al. (1991) identified a 3-bp deletion in the RDS gene (179605.0001), resulting in loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin (codon 118 or 119).The deletion segregated with the disease phenotype in the family.

Alternative name(s): Disease susceptibility may be associated with variations affecting the gene represented in this entry. Disease description A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, 2014-08-28 Peripherin was discovered as being the major intermediate filament in neuroblastoma cell lines and in rat pheochromocytoma cells. It is classified by gene structure and coding sequence as a type III IF protein because of its homology with vimentin, GFAP and desmin. All IF proteins share a common secondary structure consisting of three main domains, the most conserved of which is the central α 1996-04-01 This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous.

Peripherin gene

Nature. precise dose of peripherin-2 to combat a severe haploinsufﬁciency phenotype have delayed the development of clinically viable genetic treatments. Here we discuss the prog-ress and prospects for PRPH2-associated gene therapy. The peripherin-2 (PRPH2) gene, previously known as retinal degeneration slow (RDS), For independent verification of Peripherin gene silencing results, individual duplex components or plasmids are also available upon request Suitable control antibody: Peripherin Antibody (A-3) : sc-377093 is recommended as control antibody for monitoring of Peripherin expression knockdown by Western blotting or immunofluorescence PURPOSE To describe a novel mutation in the RDS/Peripherin gene that results in a moderately severe form of adult-onset foveomacular dystrophy. DESIGN Observational case series. METHODS Selected members of a family with adult-onset foveomacular dystrophy underwent complete ophthalmic evaluation, including fundus photography and fluorescein angiography, in a tertiary care referral center. The UniProtKB.

"A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration". Ophthalmic Genetics. 1998, 19(3).

2008-02-20

Nevertheless, the regulatory factors involved in the migration of BMMSCs remain largely unknown. In this study, we studied the role of the peripherin (PRPH) gene in regulating the ability of Wuzhishan mini pig (WZSP) BMMSCs to migrate in vitro. Four different shRNA vectors directed against PRPH were designed and transfected into BMMSCs. Peripherin is predominantly found in the PNS (hence its name), but some CNS neurons also express peripherin.

2007-05-15

Key words: intermediate filament/ peripherin/promoter/.

Here, we demonstrate by transfection of constructs mutated in PER1 that the in vitro protein binding activity of PER1 is irrelevant to its function. The peripherin gene has several different, previously identified, isoforms of peripherin generated through differential RNA processing events which have known or probable significance to ALS 47 2008-02-20 The peripherin gene is transcriptionally activated in both small and large sized sensory neurons of the dorsal root ganglion at about day E10, and mRNA is present in these cells after postnatal day 2 and throughout adulthood. peripherin is a novel substrate for Akt in vivo and its phosphorylation may play a role in motor nerve regeneration; The data of this experiment document the expression of peripherin in Lewy body-like inclusions , which may provide a clue to the pathogenesis of neurodegeneration in ALS. PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Amyotrophic Lateral Sclerosis 1 and Lateral Sclerosis. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include structural molecule activity.
Konkurser idag halland

Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. Niamh McNally, Paul F. Kenna, Derrick Rancourt, Tanweer Ahmed, Alan Stitt, William H. Colledge, David G. Lloyd, Arpad Palfi, Brian O'Neill, Marian M. Humphries, Peter Humphries, G. Jane Farrar, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene, Human Molecular Genetics, Volume 11, Issue 9, 1 May 2002, Pages 1005 Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow) gene have been identified in families with autosomal dominant retinitis pigmentosa 1 and several kinds of macular dystrophy.

We have shown previously the abnormal expression of a neurotoxic peripherin Background: Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene.
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2002-09-15

Molecular Pathology.