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PINERO-MARTOS , Estefania

Last name: PINERO-MARTOS

First name: Estefania

January 3, 2016 (v1)

Journal article

Metadata-only

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Génin, Emmanuelle Plutino, Morgane Bannwarth, Sylvie

CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10 resides with mitofilin, CHCHD3 and CHCHD6 within the "mitochondrial...

Uploaded on: December 4, 2022