Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000807850> ?p ?o ?g. }
- W2000807850 endingPage "1031" @default.
- W2000807850 startingPage "1027" @default.
- W2000807850 abstract "The CMT2B (Charcot-Marie-Tooth type 2B) disease is an autosomal dominant axonal neuropathy. Sensory loss, distal muscle weakness and wasting, frequent foot ulcers and amputations of the toes due to frequent infections characterize this neuropathy. Four missense mutations in the rab7 gene have been identified as causative of the disease. Rab7 is a small G-protein of the Rab family that controls vesicular transport to late endosomes and lysosomes in the endocytic pathway. The CMT2B-associated mutant Rab7 proteins show altered nucleotide dissociation rates and impaired GTPase activity. In addition, these mutant proteins are predominantly in the GTP-bound form when expressed in human cells and they are able to rescue Rab7 function in Rab7-depleted cells. Thus these mutations generate activated forms of Rab7 that are responsible for the development of the disease. In spite of these results, there are still important gaps in our understanding of the mechanism underlying CMT2B. Indeed, how these mutations in the rab7 gene affect specifically peripheral neurons leading to an axonal pathology in CMT2B is not clear, and it is a particularly puzzling and challenging issue in view of the fact that Rab7 is a ubiquitous protein. The present review discusses possible molecular mechanisms underlying CMT2B." @default.
- W2000807850 created "2016-06-24" @default.
- W2000807850 creator A5000258094 @default.
- W2000807850 creator A5009678379 @default.
- W2000807850 creator A5027189741 @default.
- W2000807850 date "2009-09-21" @default.
- W2000807850 modified "2023-10-14" @default.
- W2000807850 title "Rab7 and the CMT2B disease" @default.
- W2000807850 cites W1503103177 @default.
- W2000807850 cites W1595083713 @default.
- W2000807850 cites W1964835671 @default.
- W2000807850 cites W1973200579 @default.
- W2000807850 cites W1983853999 @default.
- W2000807850 cites W1989109210 @default.
- W2000807850 cites W1993458247 @default.
- W2000807850 cites W1996437447 @default.
- W2000807850 cites W1999232604 @default.
- W2000807850 cites W2003518572 @default.
- W2000807850 cites W2012560446 @default.
- W2000807850 cites W2012613986 @default.
- W2000807850 cites W2012841879 @default.
- W2000807850 cites W2014064711 @default.
- W2000807850 cites W2024805055 @default.
- W2000807850 cites W2032547984 @default.
- W2000807850 cites W2040289428 @default.
- W2000807850 cites W2063204935 @default.
- W2000807850 cites W2064142522 @default.
- W2000807850 cites W2067470102 @default.
- W2000807850 cites W2068418414 @default.
- W2000807850 cites W2075582171 @default.
- W2000807850 cites W2078313196 @default.
- W2000807850 cites W2078636414 @default.
- W2000807850 cites W2080710361 @default.
- W2000807850 cites W2082387821 @default.
- W2000807850 cites W2086053245 @default.
- W2000807850 cites W2102400397 @default.
- W2000807850 cites W2108175824 @default.
- W2000807850 cites W2112564899 @default.
- W2000807850 cites W2115271408 @default.
- W2000807850 cites W2115420323 @default.
- W2000807850 cites W2121776150 @default.
- W2000807850 cites W2124644922 @default.
- W2000807850 cites W2126118258 @default.
- W2000807850 cites W2128891737 @default.
- W2000807850 cites W2134042326 @default.
- W2000807850 cites W2142044474 @default.
- W2000807850 cites W2155554903 @default.
- W2000807850 cites W2159951830 @default.
- W2000807850 cites W2169019992 @default.
- W2000807850 cites W2169148953 @default.
- W2000807850 cites W4236597004 @default.
- W2000807850 doi "https://doi.org/10.1042/bst0371027" @default.
- W2000807850 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19754445" @default.
- W2000807850 hasPublicationYear "2009" @default.
- W2000807850 type Work @default.
- W2000807850 sameAs 2000807850 @default.
- W2000807850 citedByCount "62" @default.
- W2000807850 countsByYear W20008078502012 @default.
- W2000807850 countsByYear W20008078502013 @default.
- W2000807850 countsByYear W20008078502014 @default.
- W2000807850 countsByYear W20008078502015 @default.
- W2000807850 countsByYear W20008078502016 @default.
- W2000807850 countsByYear W20008078502017 @default.
- W2000807850 countsByYear W20008078502018 @default.
- W2000807850 countsByYear W20008078502019 @default.
- W2000807850 countsByYear W20008078502020 @default.
- W2000807850 countsByYear W20008078502021 @default.
- W2000807850 countsByYear W20008078502022 @default.
- W2000807850 countsByYear W20008078502023 @default.
- W2000807850 crossrefType "journal-article" @default.
- W2000807850 hasAuthorship W2000807850A5000258094 @default.
- W2000807850 hasAuthorship W2000807850A5009678379 @default.
- W2000807850 hasAuthorship W2000807850A5027189741 @default.
- W2000807850 hasConcept C102747710 @default.
- W2000807850 hasConcept C104317684 @default.
- W2000807850 hasConcept C143065580 @default.
- W2000807850 hasConcept C1491633281 @default.
- W2000807850 hasConcept C156728348 @default.
- W2000807850 hasConcept C169760540 @default.
- W2000807850 hasConcept C207332259 @default.
- W2000807850 hasConcept C28005876 @default.
- W2000807850 hasConcept C501734568 @default.
- W2000807850 hasConcept C54355233 @default.
- W2000807850 hasConcept C75563809 @default.
- W2000807850 hasConcept C79747257 @default.
- W2000807850 hasConcept C79879829 @default.
- W2000807850 hasConcept C86803240 @default.
- W2000807850 hasConcept C95444343 @default.
- W2000807850 hasConceptScore W2000807850C102747710 @default.
- W2000807850 hasConceptScore W2000807850C104317684 @default.
- W2000807850 hasConceptScore W2000807850C143065580 @default.
- W2000807850 hasConceptScore W2000807850C1491633281 @default.
- W2000807850 hasConceptScore W2000807850C156728348 @default.
- W2000807850 hasConceptScore W2000807850C169760540 @default.
- W2000807850 hasConceptScore W2000807850C207332259 @default.
- W2000807850 hasConceptScore W2000807850C28005876 @default.
- W2000807850 hasConceptScore W2000807850C501734568 @default.
- W2000807850 hasConceptScore W2000807850C54355233 @default.