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Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease

• Authors : Zhou, Donghu; Zi, Huaduan; Yang, Xiaoxi ...

• Source: Cellular and Molecular Gastroenterology and Hepatology ; volume 19, issue 2, page 101418 ; ISSN 2352-345X

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OP-16 FREQUENCY OF ATP7B GENE MUTATIONS IN A BRAZILIAN COHORT OF PATIENTS WITH WILSON'S DISEASE

• Authors : Chindamo, Maria Chiara; Judice, Carla C.; Valladares, Marcia Angélica Bonilha

• Source: Annals of Hepatology ; volume 29, page 101614 ; ISSN 1665-2681

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AP-1γ2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter

• Authors : Tavares, Lucas Alves; Rodrigues, Roger Luiz; Santos da Costa, Cristina ...

• Source: Journal of Biological Chemistry ; volume 300, issue 3, page 105700 ; ISSN 0021-9258

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Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study

• Authors : Ashish Goel; Chundamannil E. Eapen; Uday Zachariah

Subjects: Wilson's disease; Genetics; Atp7b gene

• Source: Journal of Clinical and Experimental Hepatology. 12:711-713

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Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice

• Authors : Agnese Padula; Raffaella Petruzzelli; Sasha A. Philbert ...

Subjects: split inteins; Medizin; Genetics

• Source: Padula, A, Petruzzelli, R, Philbert, S, Church, S, Esposito, F, Campione, S, Monti, M, Capolongo, F, Perna, C, Nusco, E, Schmidt, H, Auricchio, A, Cooper, G JS, Polishchuk, R & Piccolo, P 2022, '

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Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease

• Authors : Xu, Wan-Qing; Wang, Rou-Min; Dong, Yi ...

• Source: The Journal of Molecular Diagnostics ; volume 25, issue 1, page 57-67 ; ISSN 1525-1578

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Structures of the human Wilson disease copper transporter ATP7B

• Authors : Yang, Guo-Min; Xu, Lingyi; Wang, Rou-Min ...

• Source: Cell Reports ; volume 42, issue 5, page 112417 ; ISSN 2211-1247

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ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants

• Authors : Nayagam, Jeremy S.; Jeyaraj, Rebecca; Foskett, Pierre

• Source: Clinical Gastroenterology and Hepatology ; volume 21, issue 5, page 1323-1329.e4 ; ISSN 1542-3565

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Response to: Lack of evidence for ribosomal frameshifting in ATP7B mRNA decoding

• Authors : Meydan, Sezen; Klepacki, Dorota; Karthikeyan, Subbulakshmi

• Source: Molecular Cell ; volume 82, issue 19, page 3523 ; ISSN 1097-2765

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Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64 (10) (October 2021) 104305]

• Authors : Couchonnal, Eduardo; Bouchard, Sophie; Sandahl, Thomas Damgaard

• Source: European Journal of Medical Genetics ; volume 65, issue 3, page 104453 ; ISSN 1769-7212

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