Publications:

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Calpain activity is negatively regulated by a KCTD7-Cullin-3 complex via non-degradative ubiquitination.

Cell Discovery

Sharma, Jaiprakash J; Mulherkar, Shalaka S; Chen, Uan-I UI; Xiong, Yan Y; Bajaj, Lakshya L; Cho, Byoung-Kyu BK; Goo, Young Ah YA; Leung, Hon-Chiu Eastwood HE; Tolias, Kimberley F KF; Sardiello, Marco M

Publication Date: 2023-03-24

Variant appearance in text: KCTD7: L108M

PubMed Link: 36964131

Variant Present in the following documents:

• 41421_2023_533_MOESM1_ESM.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCTD7: 322C>A; Leu108Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: L108M

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Scientific Reports

Smaldone, Giovanni G; Balasco, Nicole N; Pirone, Luciano L; Caruso, Daniela D; Di Gaetano, Sonia S; Pedone, Emilia Maria EM; Vitagliano, Luigi L

Publication Date: 2019-07-19

Variant appearance in text: KCTD7: L108M

PubMed Link: 31324836

Variant Present in the following documents:

• Main text

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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: L108M

PubMed Link: 31197948

Variant Present in the following documents:

• Main text
• CNS-25-887.pdf

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Annals Of Neurology

Metz, Kyle A KA; Teng, Xinchen X; Coppens, Isabelle I; Lamb, Heather M HM; Wagner, Bart E BE; Rosenfeld, Jill A JA; Chen, Xianghui X; Zhang, Yu Y; Kim, Hee Jong HJ; Meadow, Michael E ME; Wang, Tim Sen TS; Haberlandt, Edda D ED; Anderson, Glenn W GW; Leshinsky-Silver, Esther E; Bi, Weimin W; Markello, Thomas C TC; Pratt, Marsha M; Makhseed, Nawal N; Garnica, Adolfo A; Danylchuk, Noelle R NR; Burrow, Thomas A TA; Jayakar, Parul P; McKnight, Dianalee D; Agadi, Satish S; Gbedawo, Hatha H; Stanley, Christine C; Alber, Michael M; Prehl, Isabelle I; Peariso, Katrina K; Ong, Min Tsui MT; Mordekar, Santosh R SR; Parker, Michael J MJ; Crooks, Daniel D; Agrawal, Pankaj B PB; Berry, Gerard T GT; Loddenkemper, Tobias T; Yang, Yaping Y; Maegawa, Gustavo H B GHB; Aouacheria, Abdel A; Markle, Janet G JG; Wohlschlegel, James A JA; Hartman, Adam L AL; Hardwick, J Marie JM

Publication Date: 2018-11

Variant appearance in text: KCTD7: L108M

PubMed Link: 30295347

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

Frontiers In Genetics

George, Arlene J AJ; Hoffiz, Yarely C YC; Charles, Antoinette J AJ; Zhu, Ying Y; Mabb, Angela M AM

Publication Date: 2018

Variant appearance in text: KCTD7: L108M

PubMed Link: 29491882

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Progressive myoclonic epilepsy with Fanconi syndrome.

Jrsm Open

Seaby, Eleanor G EG; Gilbert, Rodney D RD; Pengelly, Reuben J RJ; Andreoletti, Gaia G; Clarke, Antonia A; Ennis, Sarah S

Publication Date: 2016-06

Variant appearance in text: KCTD7: Leu108Met

PubMed Link: 27293772

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: EPM3: L108M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCTD7: L108M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Journal Of Medical Genetics

Kousi, Maria M; Anttila, Verneri V; Schulz, Angela A; Calafato, Stella S; Jakkula, Eveliina E; Riesch, Erik E; Myllykangas, Liisa L; Kalimo, Hannu H; Topçu, Meral M; Gökben, Sarenur S; Alehan, Fusun F; Lemke, Johannes R JR; Alber, Michael M; Palotie, Aarno A; Kopra, Outi O; Lehesjoki, Anna-Elina AE

Publication Date: 2012-06

Variant appearance in text: KCTD7: 322C>A; Leu108Met

PubMed Link: 22693283

Variant Present in the following documents:

• Main text

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