Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
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Author / Creator
Pennisi, Alessandra , Rötig, Agnès , Roux, Charles-Joris , Lévy, Raphaël , Henneke, Marco , Gärtner, Jutta , Teke Kisa, Pelin , Sarioglu, Fatma Ceren , Yiş, Uluç , Konczal, Laura L , Burkardt, Deepika D , Wu, Sulin , Gaignard, Pauline , Besmond, Claude , Hubert, Laurence , Rio, Marlène , Barcia, Giulia , Munnich, Arnold , Boddaert, Nathalie and Schiff, Manuel
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundBiallelic variants in PNPT1 cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA processing where it has a dual role in the import of small RNAs into mitochondria and in preventing the formation and release of mitochondrial double-stranded RNA into the cytoplas...
Alternative Titles
Full title
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Authors, Artists and Contributors
Author / Creator
Rötig, Agnès
Roux, Charles-Joris
Lévy, Raphaël
Henneke, Marco
Gärtner, Jutta
Teke Kisa, Pelin
Sarioglu, Fatma Ceren
Yiş, Uluç
Konczal, Laura L
Burkardt, Deepika D
Wu, Sulin
Gaignard, Pauline
Besmond, Claude
Hubert, Laurence
Rio, Marlène
Barcia, Giulia
Munnich, Arnold
Boddaert, Nathalie
Schiff, Manuel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2461401149
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2461401149
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107367
