Article

Mitochondrial Proteome of Affected Neurons in a Mouse Model of Leigh Syndrome

2019-12-30

Abstract excerpt

Defects in mitochondrial function lead to severe neuromuscular orphan pathologies known as mitochondrial disease. Among them, Leigh Syndrome is the most common pediatric presentation, characterized by symmetrical brain lesions, hypotonia, motor and respiratory deficits, and premature death. Mitochondrial diseases are characterized by a marked anatomical and cellular specificity. However, the molecular determinants...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: eea705f0-144a-5830-a8fd-4cf9092ae1d3
DOI: 10.1101/2019.12.29.890541

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial Proteome of Affected Neurons in a Mouse Model of Leigh SyndromeDOI 10.1101/2019.12.29.890541Read

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.Semantic proximity Read

SWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model.Semantic proximity Read

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read

Disease models of Leigh syndrome: From yeast to organoids.Semantic proximity Read

The Path to Precision Medicine in Leigh Syndrome Spectrum: A Four-Decade Chronicle of Genetic Discovery and Targeted Treatment.Semantic proximity Read

Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndromeSemantic proximity Read

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.Semantic proximity Read

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndromeSemantic proximity Read

Leigh Syndrome: A Comprehensive Review of Disease, Present and Future TreatmentsSemantic proximity Read

Clinical and molecular characterization of a novel pathogenic AIFM1 E336K mutation connecting mitochondrial dysfunction and neurodegenerationSemantic proximity Read

Defined neuronal populations drive fatal phenotype in Leigh SyndromeSemantic proximity Read

Subcellular proteomics combined with bioenergetic phenotyping reveals protein biomarkers of respiratory insufficiency in the setting of proofreading-deficient mitochondrial polymerase.Semantic proximity Read