A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P<sub>2</sub> and causes lysosome acidification and hypopigmentation.

Wang, Qiaochu; Wang, Zengge; Wang, Yizhen; Qi, Zhan; Bai, Dayong; Wang, Chentong; Chen, Yuanying; Xu, Wenjian; Zhu, Xili; Jeon, Jaepyo; Xiong, Jian; Hao, Chanjuan; Zhu, Michael Xi; Wei, Aihua; Li, Wei

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P₂ and causes lysosome acidification and hypopigmentation.

Wang, Qiaochu; Wang, Zengge; Wang, Yizhen; Qi, Zhan; Bai, Dayong; Wang, Chentong; Chen, Yuanying; Xu, Wenjian; Zhu, Xili; Jeon, Jaepyo; Xiong, Jian; Hao, Chanjuan; Zhu, Michael Xi; Wei, Aihua; Li, Wei.

Afiliación

Wang Q; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.
Wang Z; MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China.
Wang Y; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Qi Z; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.
Bai D; MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China.
Wang C; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Chen Y; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.
Xu W; MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China.
Zhu X; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Jeon J; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.
Xiong J; MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China.
Hao C; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Zhu MX; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University; National Center for Children's Health, Beijing, China.
Wei A; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing, China.
Li W; MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China.

Nat Commun ; 14(1): 226, 2023 01 14.

Article en En | MEDLINE | ID: mdl-36641477

Asunto(s)

Albinismo; Canales de Calcio; Mutación con Ganancia de Función; Animales; Ratones; Albinismo/genética; Fibroblastos; Concentración de Iones de Hidrógeno; Lisosomas/metabolismo; Canales de Calcio/genética

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Canales de Calcio / Albinismo / Mutación con Ganancia de Función Tipo de estudio: Etiology_studies Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article

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