Publications:

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R84Q

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.

Cns Neuroscience & Therapeutics

Teng, Xinchen X; Aouacheria, Abdel A; Lionnard, Loïc L; Metz, Kyle A KA; Soane, Lucian L; Kamiya, Atsushi A; Hardwick, J Marie JM

Publication Date: 2019-07

Variant appearance in text: KCTD7: R84Q

PubMed Link: 31197948

Variant Present in the following documents:

• Main text
• CNS-25-887.pdf

View BVdb publication page