Associated Papers
SNARE mimicry by the CD225 domain of IFITM3 enables regulation of homotypic late endosome fusion.
Rahman K et al.
The Embo Journal, 2025
SNARE mimicry by the CD225 domain of IFITM3 enables regulation of homotypic late endosome fusion.
Rahman K et al.
Biorxiv : the Preprint Server for Biology, 2024
A novel domain within the CIL regulates egress of IFITM3 from the Golgi and reveals a regulatory role of IFITM3 on the secretory pathway.
Zhong L et al.
Life Science Alliance, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Liu M et al.
Frontiers in Pediatrics, 2022
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Huang XJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Zhao SY et al.
Cns Neuroscience & Therapeutics, 2020
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Tsai MH et al.
Epilepsia, 2019
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.
Zhao G et al.
The International Journal of Neuroscience, 2018
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2015
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Becker F et al.
Journal of Neurology, 2013
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