E. Perli

发表

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

A. Martinuzzi, E. Ragazzi, L. Caparrotta, 2011, Brain : a journal of neurology.

The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof

V. Morea, G. d’Amati, C. Giordano, 2015, Front. Genet..

Nonischemic left ventricular scar and cardiac sudden death in the young.

V. Palmieri, G. d’Amati, C. D. di Gioia, 2016, Human pathology.

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

Robert W. Taylor, A. F. Campese, L. Frontali, 2012, Human molecular genetics.

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

Robert W. Taylor, F. Pichiorri, G. d’Amati, 2010, Archives of neurology.

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

Robert W. Taylor, P. Bonnen, V. Morea, 2019, Scientific Reports.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Robert W. Taylor, A. Fiorillo, V. Morea, 2015, Human molecular genetics.

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Robert W. Taylor, L. Frontali, M. Zeviani, 2014, EMBO molecular medicine.

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

Robert W. Taylor, C. Autore, V. Petrozza, 2013, Human pathology.

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.

E. Bonora, Christine Betts, V. Eusebi, 2013, Human pathology.

Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

Robert W. Taylor, C. Nediani, V. Petrozza, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

A 22-year-old woman with unexplained exertional dyspnoea

P. Palange, M. Bonini, M. Internullo, 2016, Thorax.

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

M. Montopoli, A. Ghelli, V. Carelli, 2015, Human molecular genetics.

Estrogens Ameliorate Mitochondrial Dysfunction in Leber Hereditary Optic Neuropathy

M. Montopoli, A. Ghelli, V. Carelli, 2010 .

Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects

A. Ghelli, V. Morea, V. Turris, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

P. Bonnen, V. Morea, F. Re, 2019, Scientific Reports.