What's hot about otoferlin

Karen B. Avraham

doi:10.15252/embj.201695881

What's hot about otoferlin

Karen B. Avraham

Human Molecular Genetics Biochemistry

Tel Aviv University

Research output: Contribution to journal › Comment/debate

Abstract

Mutations in the otoferlin (OTOF) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects but only at higher body temperature, and the reasons for this have been elusive until now. A study published in this issue of The EMBO Journal (Strenzke et al,) adds insight into the underlying mechanisms for this heat-dependent hearing loss.

Original language	English
Pages (from-to)	2502-2504
Number of pages	3
Journal	EMBO Journal
Volume	35
Issue number	23
DOIs	https://doi.org/10.15252/embj.201695881
State	Published - 1 Dec 2016

All Science Journal Classification (ASJC) codes

General Neuroscience
Molecular Biology
General Biochemistry,Genetics and Molecular Biology
General Immunology and Microbiology

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10.15252/embj.201695881

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abstract = "Mutations in the otoferlin (OTOF) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects but only at higher body temperature, and the reasons for this have been elusive until now. A study published in this issue of The EMBO Journal (Strenzke et al,) adds insight into the underlying mechanisms for this heat-dependent hearing loss.",

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What's hot about otoferlin

Abstract

All Science Journal Classification (ASJC) codes

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