Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the...
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
About this item
Full title
Author / Creator
Nobile, Veronica , Palumbo, Federica , Lanni, Stella , Ghisio, Valentina , Vitali, Alberto , Castagnola, Massimo , Marzano, Valeria , Maulucci, Giuseppe , De Angelis, Claudio , De Spirito, Marco , Pacini, Laura , D’Andrea, Laura , Ragno, Rino , Stazi, Giulia , Valente, Sergio , Mai, Antonello , Chiurazzi, Pietro , Genuardi, Maurizio , Neri, Giovanni and Tabolacci, Elisabetta
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5′ UTR of the
FMR1
gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X syndrome (FXS) patients, main...
Alternative Titles
Full title
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
Authors, Artists and Contributors
Author / Creator
Palumbo, Federica
Lanni, Stella
Ghisio, Valentina
Vitali, Alberto
Castagnola, Massimo
Marzano, Valeria
Maulucci, Giuseppe
De Angelis, Claudio
De Spirito, Marco
Pacini, Laura
D’Andrea, Laura
Ragno, Rino
Stazi, Giulia
Valente, Sergio
Mai, Antonello
Chiurazzi, Pietro
Genuardi, Maurizio
Neri, Giovanni
Tabolacci, Elisabetta
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2336256285
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2336256285
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-019-02104-7
