Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
  Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B., et al. (2016). Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife, 5: e16078. doi:10.7554/eLife.16078.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel

Dateien

einblenden: Dateien
ausblenden: Dateien
:
Hartmann.pdf (Verlagsversion), 5MB
Name:
Hartmann.pdf
Beschreibung:
-
OA-Status:
Sichtbarkeit:
Öffentlich
MIME-Typ / Prüfsumme:
application/pdf / [MD5]
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
© 2016, Hartmann et al

Externe Referenzen

einblenden:
ausblenden:
externe Referenz:
http://www.ncbi.nlm.nih.gov/pubmed/27495975 (beliebiger Volltext)
Beschreibung:
-
OA-Status:

Urheber

einblenden:
ausblenden:
 Urheber:
Hartmann, B., Autor
Wai, T., Autor
Hu, H.1, Autor
MacVicar, T., Autor
Musante, L.1, Autor           
Fischer-Zirnsak, B., Autor
Stenzel, W., Autor
Graf, R., Autor
van den Heuvel, L., Autor
Ropers, H. H.1, Autor           
Wienker, T. F.2, Autor           
Hübner, C., Autor
Langer, T., Autor
Kaindl, A. M., Autor
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              

Inhalt

einblenden:
ausblenden:
Schlagwörter: ATPases Associated with Diverse Cellular Activities Female *Homozygote Humans Male Metalloendopeptidases/*genetics Mitochondria/*pathology Mitochondrial Diseases/*genetics Mitochondrial Proteins *Mutation, Missense Optic Atrophy/*genetics *Opa1 *Yme1l1 *human *human biology *intellectual disability *medicine *mitochondrial fragmentation *mitochondriopathy *mouse *optic atrophy
 Zusammenfassung: Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2016-08-062016
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: DOI: 10.7554/eLife.16078
ISSN: 2050-084X (Electronic)
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: eLife
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: Cambridge : eLife Sciences Publications
Seiten: - Band / Heft: 5 Artikelnummer: e16078 Start- / Endseite: - Identifikator: ISSN: 2050-084X
CoNE: https://pure.mpg.de/cone/journals/resource/2050-084X