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: S113P

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Molecular Genetics & Genomic Medicine

Kozina, Anastasiya A AA; Okuneva, Elena G EG; Baryshnikova, Natalia V NV; Kondakova, Olga B OB; Nikolaeva, Ekaterina A EA; Fedoniuk, Inessa D ID; Mikhailova, Svetlana V SV; Krasnenko, Anna Y AY; Stetsenko, Ivan F IF; Plotnikov, Nikolay A NA; Klimchuk, Olesia I OI; Popov, Yaroslav V YV; Surkova, Ekaterina I EI; Shatalov, Peter A PA; Rakitko, Alexander S AS; Ilinsky, Valery V VV

Publication Date: 2020-07

Variant appearance in text: CLN14: 337T>C

PubMed Link: 32412666

Variant Present in the following documents:

• Main text
• MGG3-8-e1228.pdf

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