Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
About this item
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Author / Creator
Puusepp, Sanna , Kovacs-Nagy, Reka , Alhaddad, Bader , Braunisch, Matthias , Hoffmann, Georg F. , Kotzaeridou, Urania , Lichvarova, Lucia , Liiv, Mailis , Makowski, Christine , Mandel, Merle , Meitinger, Thomas , Pajusalu, Sander , Rodenburg, Richard J. , Safiulina, Dzhamilja , Strom, Tim M. , Talvik, Inga , Vaarmann, Annika , Wilson, Callum , Kaasik, Allen , Haack, Tobias B. and Õunap, Katrin
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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More information
Scope and Contents
Contents
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However...
Alternative Titles
Full title
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Authors, Artists and Contributors
Author / Creator
Kovacs-Nagy, Reka
Alhaddad, Bader
Braunisch, Matthias
Hoffmann, Georg F.
Kotzaeridou, Urania
Lichvarova, Lucia
Liiv, Mailis
Makowski, Christine
Mandel, Merle
Meitinger, Thomas
Pajusalu, Sander
Rodenburg, Richard J.
Safiulina, Dzhamilja
Strom, Tim M.
Talvik, Inga
Vaarmann, Annika
Wilson, Callum
Kaasik, Allen
Haack, Tobias B.
Õunap, Katrin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2019451997
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2019451997
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-017-0001-6
