PuSH - Publikationsserver des Helmholtz Zentrums München: Compound heterozygous <em>SPATA5</em> variants in four families and functional studies of SPATA5 deficiency.

Informationen

Hinweise zu Qualitätskriterien von Zeitschriften

Open-Access-Richtlinie der Helmholtz-Gemeinschaft 2016

CC Licencences

Metriken für Publikationen

Navigation

Startseite

English

EVA: Veröffentlichen

Neuer EVA Antrag

Recherche

Erweiterte Suche

Durchblättern nach ...

... HMGU-Autoren/Konsortien

... Organisationsstruktur

... Zeitschriften

... Publikationstypen

... Forschungsdaten

... Arbeitsgruppen

... Erscheinungsjahr

Publikationen im Überblick

Statistik

HGF Fortschrittsbericht

OA Publikationen

Eintragen

Neue Publikation eintragen

Neue Publikation holen aus...

...EVA

Fehlende Publikation melden

Highlights

Suche

Hilfe & Kontakt

Ansprechpartner

Hilfe

Datenschutz

Helmholtz Open Science

Bibliometrische Indikatoren

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Puusepp, S.* ; Kovács-Nagy, R.* ; Alhaddad, B.* ; Braunisch, M.C.* ; Hoffmann, G.F.* ; Kotzaeridou, U.* ; Lichvarova, L.* ; Liiv, M.* ; Makowski, C.* ; Mandel, M.* ; Meitinger, T. ; Pajusalu, S.* ; Rodenburg, R.J.* ; Safiulina, D.* ; Strom, T.M. ; Talvik, I.* ; Vaarmann, A.* ; Wilson, C.* ; Kaasik, A.* ; Haack, T.B. ; Õunap, K.*

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Eur. J. Hum. Genet. 26, 407-419 (2018)

Verlagsversion

Forschungsdaten

DOI

	Open Access Hybrid

Abstract
Metriken
Zusatzinfos

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 no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene. A summary of clinical data of all the SPATA5 patients reported in the literature confirms the characteristic phenotype. To assess SPATA5' s role in mitochondrial dynamics, functional studies were performed on rat cortical neurons. SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. In conclusion, SPATA5 protein has an important role in mitochondrial dynamics and axonal growth. Biallelic variants in the SPATA5 gene can affect mitochondria in cortical neurons and should be considered in patients with a neurodegenerative disorder and/or with clinical presentation resembling a mitochondrial disorder.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

3.636

1.096