CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters [Ca.sup.2+] homeostasis

CHCHD2 and CHCHD10, linked to Parkinson's disease and amyotrophic lateral sclerosis-frontotemporal dementia (ALS), respectively, are mitochondrial intermembrane proteins that form a heterodimer. This study aimed to investigate the impact of the CHCHD2 P14L variant, implicated in ALS, on mitocho...

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Veröffentlicht in:	PNAS nexus 2024-08, Vol.3 (8)
Hauptverfasser:	Ikeda, Aya, Meng, Hongrui, Taniguchi, Daisuke, Mio, Muneyo, Funayama, Manabu, Nishioka, Kenya, Yoshida, Mari, Li, Yuanzhe, Yoshino, Hiroyo, Inoshita, Tsuyoshi, Shiba-Fukushima, Kahori, Okubo, Yohei, Sakurai, Takashi, Amo, Taku, Aiba, Ikuko, Saito, Yufuko, Saito, Yuko, Murayama, Shigeo, Atsuta, Naoki, Nakamura, Ryoichi, Tohnai, Genki, Izumi, Yuishin, Morita, Mitsuya, Tamura, Asako, Kano, Osamu, Oda, Masaya, Kuwabara, Satoshi, Yamashita, Toru, Sone, Jun, Kaji, Ryuji, Sobue, Gen, Imai, Yuzuru, Hattori, Nobutaka
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Calcium ions Calpain Cytoplasm Dementia Development and progression Drosophila Health aspects Homeostasis Immobilized enzymes Membrane proteins Neurons
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