Morgane Le Mao

Angers, France

Last Updated: 09/26/2026

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Found 10 publications

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Journal: Frontiers in genetics

Published: July 16, 2023

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 12, 2023

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 09, 2021

Plis de passage in the superior temporal sulcus: Morphology and local connectivity.

Plis de passage in the superior temporal sulcus: Morphology and local connectivity.

Journal: NeuroImage

Published: August 03, 2020

Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming.

Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming.

Journal: Nature communications

Published: October 07, 2019

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Journal: Nature communications

Published: August 23, 2019

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.

Journal: Endocrine-related cancer

Published: January 14, 2019

Warburg-like effect is a hallmark of complex I assembly defects.

Warburg-like effect is a hallmark of complex I assembly defects.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: December 18, 2018

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.

Journal: Scientific reports

Published: February 28, 2018

CLUH couples mitochondrial distribution to the energetic and metabolic status.

CLUH couples mitochondrial distribution to the energetic and metabolic status.

Journal: Journal of cell science

Published: January 17, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026