Associated Papers
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Tona R et al.
The Journal of Biological Chemistry, 2024
39214300 (PubMed )
Supplement: mmc1.docx
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Oziębło D et al.
Scientific Reports, 2021
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R et al.
Genes, 2020
Unresolved questions regarding human hereditary deafness.
Rehman AU et al.
Oral Diseases, 2017
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Fischer B et al.
Nature Structural & Molecular Biology, 2016
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Appavu B et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A et al.
Plos One, 2015
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