Laura Melchionda

Milan, Italy

Last Updated: 09/26/2026

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Found 12 publications

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

Journal: EMBO molecular medicine

Published: September 08, 2018

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Journal: American journal of human genetics

Published: April 15, 2015

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Journal: JIMD reports

Published: November 13, 2014

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

Journal: Frontiers in genetics

Published: October 01, 2014

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Journal: American journal of human genetics

Published: May 14, 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Journal: Neurology

Published: May 09, 2014

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Journal: Human mutation

Published: November 25, 2013

Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease.

Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease.

Journal: Brain research

Published: October 16, 2013

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Journal: Human mutation

Published: May 22, 2013

Rotenone upregulates alpha-synuclein and myocyte enhancer factor 2D independently from lysosomal degradation inhibition.

Rotenone upregulates alpha-synuclein and myocyte enhancer factor 2D independently from lysosomal degradation inhibition.

Journal: BioMed research international

Published: April 05, 2013

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Journal: Orphanet journal of rare diseases

Published: December 11, 2012

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Journal: American journal of human genetics

Published: January 26, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026