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Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1291601348

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

About this item

Full title

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

Publisher

Berlin/Heidelberg: Springer-Verlag

Journal title

Acta neuropathologica, 2013-02, Vol.125 (2), p.245-256

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer-Verlag

More information

Scope and Contents

Contents

Charcot–Marie–Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitofusin 2 (Mfn2) that is intimately involved with the outer mitochondrial membrane fusion machinery. The precise consequences of these mutations on oxidative phosphorylation are still a matter of dispute. Here, we investigate the...

Alternative Titles

Full title

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1291601348

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1291601348

Other Identifiers

ISSN

0001-6322

E-ISSN

1432-0533

DOI

10.1007/s00401-012-1036-y

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