A <scp> <i>PNPLA8</i> </scp> frameshift variant in Australian shepherd dogs with hereditary ataxia-Reference-Cited by-同舟云学术

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia

Published:2022-07-21 Issue:5 Volume:53 Page:709-712
ISSN:0268-9146
Container-title:Animal Genetics
language:en
Short-container-title:Animal Genetics

Author:

Abitbol Marie¹²^ORCID,Jagannathan Vidhya³^ORCID,Laurent Nelly¹,Noblet Eglantine¹,Dutil Guillaume F.⁴,Troupel Thibaut⁵,de Dufaure de Citres Caroline⁶,Gache Vincent²,Blot Stéphane⁵,Escriou Catherine¹,Leeb Tosso³^ORCID

Affiliation:

1. Univ Lyon VetAgro Sup Marcy‐l'Etoile France

2. Institut NeuroMyoGène INMG‐PNMG, CNRS UMR5261, INSERM U1315, Faculté de Médecine, Rockefeller Université Claude Bernard Lyon 1 Lyon France

3. Institute of Genetics, Vetsuisse Faculty University of Bern Bern Switzerland

4. Division of Clinical Neurology and Neurosurgery CHV Atlantia Nantes France

5. Ecole Nationale Vétérinaire d'Alfort Univ Paris Est Créteil, INSERM, IMRB Maisons‐Alfort France

6. Antagene La Tour de Salvagny France

Publisher

Wiley

Subject

Genetics,Animal Science and Zoology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/age.13245

Reference9 articles.

1. Calcium-independent phospholipase A2γ (iPLA2γ) and its roles in cellular functions and diseases

2. A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

3. Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

4. The phospholipase iPLA2γ is a major mediator releasing oxidized aliphatic chains from cardiolipin, integrating mitochondrial bioenergetics and signaling

5. Genetic Ablation of Calcium-independent Phospholipase A2γ Leads to Alterations in Hippocampal Cardiolipin Content and Molecular Species Distribution, Mitochondrial Degeneration, Autophagy, and Cognitive Dysfunction

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