Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Landoure G; Zdebik AA; Martinez TL; Burnett BG; Stanescu HC; Inada H; Shi Y; Taye AA; Kong L; Munns CH; Choo SS; Phelps CB; Paudel R; Houlden H; Ludlow CL; Caterina MJ; Gaudet R; Kleta R; Fischbeck KH; Sumner CJNat Genet 2010[Feb]; 42 (2): 170-4Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified two heterozygous missense mutations in the TRPV4 gene, C805T and G806A, resulting in the amino acid substitutions R269C and R269H. TRPV4 is a well-known member of the TRP superfamily of cation channels. In TRPV4-transfected cells, the CMT2C mutations caused marked cellular toxicity and increased constitutive and activated channel currents. Mutations in TRPV4 were previously associated with skeletal dysplasias. Our findings indicate that TRPV4 mutations can also cause a degenerative disorder of the peripheral nerves. The CMT2C-associated mutations lie in a distinct region of the TRPV4 ankyrin repeats, suggesting that this phenotypic variability may be due to differential effects on regulatory protein-protein interactions.|Adolescent[MESH]|Adult[MESH]|Aged[MESH]|Amino Acid Sequence[MESH]|Amino Acid Substitution/genetics[MESH]|Ankyrin Repeat[MESH]|Base Sequence[MESH]|Cell Membrane/metabolism[MESH]|Charcot-Marie-Tooth Disease/*genetics/physiopathology[MESH]|DNA Mutational Analysis[MESH]|Female[MESH]|Humans[MESH]|Ion Channel Gating[MESH]|Male[MESH]|Middle Aged[MESH]|Models, Molecular[MESH]|Molecular Sequence Data[MESH]|Mutant Proteins/metabolism[MESH]|Mutation/*genetics[MESH]|Neurotoxins[MESH]|Pedigree[MESH]|Phenotype[MESH]|TRPV Cation Channels/chemistry/*genetics[MESH]|Young Adult[MESH] |
