A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse

Homozygote varitint-waddler (Va) mice, expressing a mutant isoform (A419P) of TRPML3 (mucolipin 3), are profoundly deaf and display vestibular and pigmentation deficiencies, sterility, and perinatal lethality. Here we show that the varitint-waddler isoform of TRPML3 carrying an A419P mutation repres...

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Bibliographische Detailangaben
Hauptverfasser: Grimm, Christian, Cuajungco, Math P., van Aken, Alexander F. J., Schnee, Michael, Jörs, Simone, Kros, Corné J., Ricci, Anthony J., Heller, Stefan
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2007
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2148332/
https://ncbi.nlm.nih.gov/pubmed/18048323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0709846104
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