Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech...
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
About this item
Full title
Author / Creator
Morimoto, Marie , Bhambhani, Vikas , Gazzaz, Nour , Davids, Mariska , Sathiyaseelan, Paalini , Macnamara, Ellen F. , Lange, Jennifer , Lehman, Anna , Zerfas, Patricia M. , Murphy, Jennifer L. , Acosta, Maria T. , Wang, Camille , Alderman, Emily , Reichert, Sara , Thurm, Audrey , Adams, David R. , Introne, Wendy J. , Gorski, Sharon M. , Boerkoel, Cornelius F. , Gahl, William A. , Tifft, Cynthia J. , Malicdan, May Christine V. and Undiagnosed Diseases Network
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three individuals from two unrelated families with a neur...
Alternative Titles
Full title
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Authors, Artists and Contributors
Author / Creator
Bhambhani, Vikas
Gazzaz, Nour
Davids, Mariska
Sathiyaseelan, Paalini
Macnamara, Ellen F.
Lange, Jennifer
Lehman, Anna
Zerfas, Patricia M.
Murphy, Jennifer L.
Acosta, Maria T.
Wang, Camille
Alderman, Emily
Reichert, Sara
Thurm, Audrey
Adams, David R.
Introne, Wendy J.
Gorski, Sharon M.
Boerkoel, Cornelius F.
Gahl, William A.
Tifft, Cynthia J.
Malicdan, May Christine V.
Undiagnosed Diseases Network
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_26c827d9dfcc46b4ace723c7df39bf58
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_26c827d9dfcc46b4ace723c7df39bf58
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-022-00343-8
