I. Ferrero

发表

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

P. Bovolenta, M. Zeviani, B. Franco, 2013, EMBO molecular medicine.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Robert W. Taylor, F. H. van der Westhuizen, A. Peet, 2012, Journal of Medical Genetics.

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

M. Castellano, H. Neumann, M. Mannelli, 2013, Human molecular genetics.

Mitochondrial diseases and the role of the yeast models.

M. Bolotin-Fukuhara, L. Frontali, T. Rinaldi, 2010, FEMS yeast research.

Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60

L. Rizzetto, D. Uccelletti, P. Goffrini, 2012, Journal of aging research.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

M. Zeviani, E. Lamantea, Isabella Pisano, 2008, Neuromuscular Disorders.

Defective PITRM 1 mitochondrial peptidase is associated with A b amyloidotic neurodegeneration

Amati, M. Zeviani, S. Johansson, 2015 .

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

T. Strom, M. Zeviani, H. Prokisch, 2009, Nature Genetics.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

V. Mootha, Pedro Rebelo-Guiomar, Aaron R D'Souza, 2017, Human molecular genetics.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Robert W. Taylor, Aaron R D'Souza, M. Minczuk, 2015, American journal of human genetics.

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

Robert W. Taylor, M. Santibanez-Koref, P. Chinnery, 2014, PLoS genetics.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Robert W. Taylor, M. Minczuk, T. Wieland, 2013, American journal of human genetics.

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

T. Meitinger, T. Strom, M. Zeviani, 2012, American journal of human genetics.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

E. Bertini, A. Vanderver, R. Carrozzo, 2016, Brain : a journal of neurology.

A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

M. Zeviani, D. Ghezzi, C. Lamperti, 2013, Human mutation.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

M. Zeviani, P. Gasparini, P. D'Adamo, 2008, American journal of human genetics.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016 .

Recurrent De Novo Dominant Mutations in SLC 2 SA 4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy

Robert W. Taylor, M. Simpson, R. Rodenburg, 2022 .

Yeast models of mitochondrial diseases due to mutations in nuclear genes

Monique Bolotin-Fukuhara, Teresa Rinaldi, M. Bolotin-Fukuhara, 2010 .

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

D. Birchall, M. Santibanez-Koref, P. Chinnery, 2014, Nature Communications.

Defective PITRM 1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration

M. Zeviani, S. Johansson, A. Reyes, 2015 .

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

M. Zeviani, S. Johansson, A. Reyes, 2015, EMBO molecular medicine.

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

M. Castellano, H. Neumann, M. Mannelli, 2013, Human molecular genetics.