TITLE

Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene

AUTHOR(S)
TOYKA, KLAUS V; ZIELASEK, JÜRGEN; RICKER, KENNETH; ADLKOFER, KATRIN; SUTER, UELI; Toyka, K V; Zielasek, J; Ricker, K; Adlkofer, K; Suter, U
PUB. DATE
December 1997
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Dec1997, Vol. 63 Issue 6, p812
SOURCE TYPE
Academic Journal
DOC. TYPE
letter
ABSTRACT
No abstract available.
ACCESSION #
66329418

 

Related Articles

  • Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects. Evers, B.; Jonkers, J. // Oncogene;9/25/2006, Vol. 25 Issue 43, p5885 

    Germline mutations in BRCA1 and BRCA2 are responsible for a large proportion of hereditary breast and ovarian cancers. Soon after the identification of both genes in the mid-1990s, investigators set out to develop mouse models for the associated disease. Whereas conventional Brca1 and Brca2...

  • Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene. Poujois, Aurélia; Antoine, Jean-Christophe; Combes, Agnès.; Touraine, Renaud Laurian // Journal of Neurology;Jul2006, Vol. 253 Issue 7, p957 

    A letter to the editor is presented in response to the article "Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene," that was published in the previous issue of the "Journal of Neurology."

  • Increased Expression of Carnitine Palmitoyltransferase I Gene Is Repressed by Administering L-Carnitine in the Hearts of Carnitine-Deficient Juvenile Visceral Steatosis Mice. Uenaka, Rikako; Kuwajima, Masamichi; Ono, Akira; Matsuzawa, Yuji; Hayakawa, Jun-ichiro; Inohara, Naohiro; Kagawa, Yasuo; Ohta, Shigeo // Journal of Biochemistry;1996, Vol. 119 Issue 3, p533 

    The juvenile visceral steatosis (JVS) mouse is a novel mutant animal for studying systemic carnitine deficiency. The importance of the model has been pointed out in carnitine-deficient cardiac hypertrophy, since cardiomyopathy has been often improved after oral carnitine therapy in human...

  • PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot–Marie–Tooth 1A biomarker. Nobbio, Lucilla; Visigalli, Davide; Radice, Davide; Fiorina, Elisabetta; Solari, Alessandra; Lauria, Giuseppe; Reilly, Mary M.; Santoro, Lucio; Schenone, Angelo; Pareyson, Davide // Brain: A Journal of Neurology;Jun2014, Vol. 137 Issue 6, p1614 

    Charcot–Marie–Tooth 1A disease is caused by PMP22 gene duplication and is currently incurable and lacking reliable biomarkers. Nobbio et al. report that PMP22 messenger RNA varies extensively among patients at baseline and following ascorbic acid treatment. PMP22 messenger RNA...

  • Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis. Carletti, Barbara; Piermarini, Emanuela; Tozzi, Giulia; Travaglini, Lorena; Torraco, Alessandra; Pastore, Anna; Sparaco, Marco; Petrillo, Sara; Carrozzo, Rosalba; Bertini, Enrico; Piemonte, Fiorella // International Journal of Molecular Sciences;Apr2014, Vol. 15 Issue 4, p5789 

    Friedreich's ataxia (FRDA) is a hereditary neurodegenerative disease characterized by a reduced synthesis of the mitochondrial iron chaperon protein frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Despite neurodegeneration being the...

  • Mouse Tales from Kresge: The Deafness Mouse. Drury, Stacy S.; Keats, Bronya J. B. // Journal of the American Academy of Audiology;Aug2003, Vol. 14 Issue 6, p296 

    Mouse models for human deafness have not only proven instrumental in the identification of genes for hereditary hearing loss, but are excellent model systems in which to examine gene function as well as the resulting pathophysiology. One mouse model for human nonsyndromic deafness is the...

  • Gene expression of PMP22 is an independent prognostic factor for disease-free and overall survival in breast cancer patients. Dan Tong; Heinze, Georg; Pils, Dietmar; Wolf, Andrea; Singer, Christian F.; Concin, Nicole; Hofstetter, Gerda; Schiebel, Ingrid; Rudas, Margaretha; Zeillinger, Robert // BMC Cancer;2010, Vol. 10, p682 

    Background: Gene expression of peripheral myelin protein 22 (PMP22) and the epithelial membrane proteins (EMPs) was found to be differentially expressed in invasive and non-invasive breast cell lines in a previous study. We want to evaluate the prognostic impact of the expression of these genes...

  • Assembly of the cochlear gap junction macromolecular complex requires connexin 26. Kazusaku Kamiya; Yum, Sabrina W.; Nagomi Kurebayashi; Miho Muraki; Kana Ogawa; Keiko Karasawa; Asuka Miwa; Xueshui Guo; Satoru Gotoh; Yoshinobu Sugitani; Hitomi Yamanaka; Shioko Ito-Kawashima; Takashi Iizuka; Takashi Sakurai; Tetsuo Noda; Osamu Minowa; Katsuhisa Ikeda // Journal of Clinical Investigation;Apr2014, Vol. 124 Issue 4, p1598 

    Hereditary deafness affects approximately 1 in 2,000 children. Mutations in the gene encoding the cochlear gap junction protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as 50% of hereditary deafness cases in certain populations....

  • PMP22 expression in dermal nerve myelin from patients with CMT1A. Katona, Istvan; Wu, Xingyao; Feely, Shawna M. E.; Sottile, Stephanie; Siskind, Carly E.; Miller, Lindsey J.; Shy, Michael E.; Li, Jun // Brain: A Journal of Neurology;Jul2009, Vol. 132 Issue 7, p1734 

    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein-22 (PMP22) gene. Increased levels of PMP22 in compact myelin of peripheral nerves have been demonstrated and presumed to cause the phenotype of CMT1A....

  • Genetics.  // Journal of Neurology;May2006 Supplement 2, Vol. 253, pII50 

    The article presents abstracts of medical research related to genetics. They include "Association of vitamin D receptor gene polymorphism with reduced disability in multiple sclerosis," "Increased Purkinje cells acid sphingomyelinase activity: an early pathogenetic event in a spinocerebellar...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics