Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

doi:10.1093/brain/awaa064

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Article

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

Brain : a journal of neurology - 1 Apr 2020

Oji Yutaka, Hatano Taku, Ueno Shin-Ichi, Funayama Manabu, Ishikawa Kei-Ichi, Okuzumi Ayami, Noda Sachiko, Sato Shigeto, Satake Wataru, Toda Tatsushi, Li Yuanzhe, Hino-Takai Tomoko, Kakuta Soichiro, Tsunemi Taiji, Yoshino Hiroyo, Nishioka Kenya, Hattori Tatsuya, Mizutani Yasuaki, Mutoh Tatsuro, Yokochi Fusako, Ichinose Yuta, Koh Kishin, Shindo Kazumasa, Takiyama Yoshihisa, Hamaguchi Tsuyoshi, Yamada Masahito, Farrer Matthew J, Uchiyama Yasuo, Akamatsu Wado, Wu Yih-Ru, Matsuda Junko, Hattori Nobutaka

Abstract excerpt

Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a rare causative gene of various types of lysosomal storage disorders, are linked to Parkinson's disease. Genetic mutation screening revealed three pathogenic mutations in the saposin D domain of PSAP from three families with autosomal...

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PMID: 32201884
DOI: 10.1093/brain/awaa064

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