Andrea Martinuzzi

Overview

Best Publications

• MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

  A. Chomyn;A. Martinuzzi;M. Yoneda;A. Daga

  668
  Citations

• MELAS: Clinical features, biochemistry, and molecular genetics

  E. Ciafaloni;E. Ricci;S. Shanske;C. T. Moraes

  601
  Citations

• Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

  Genny Orso;Diana Pendin;Song Liu;Jessica Tosetto

  490
  Citations

• Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability

  Rune J. Simeonsson;Mathilde Leonardi;Don Lollar;Eva Björck-Åkesson

  426
  Citations

• Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

  Celine Perier;Kim Tieu;Christelle Guégan;Casper Caspersen

  354
  Citations

• Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

  John Guy;Xiaoping Qi;Francesco Pallotti;Eric A. Schon

  317
  Citations

• Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

  Makoto Yoneda;Anne Chomyn;Andrea Martinuzzi;Orest Hurko

  310
  Citations

• Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

  Carla Giordano;Monica Montopoli;Elena Perli;Maurizia Orlandi

  272
  Citations

• Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III

  Elena Bonora;Anna Maria Porcelli;Giuseppe Gasparre;Annalisa Biondi

  244
  Citations

• Prevalence and correlates of mental disorders among adolescents in Italy: the PrISMA study

  Alessandra Frigerio;Paola Rucci;Paola Rucci;Robert Goodman;Massimo Ammaniti

  218
  Citations

• Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium

  Anna Ghelli;Claudia Zanna;Anna Maria Porcelli;Anthony H.V. Schapira

  217
  Citations

• Severe Impairment of Complex I-Driven Adenosine Triphosphate Synthesis in Leber Hereditary Optic Neuropathy Cybrids

  Alessandra Baracca;Giancarlo Solaini;Gianluca Sgarbi;Giorgio Lenaz

  189
  Citations

• Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

  Rosa Pello;Miguel A. Martín;Valerio Carelli;Leo G. Nijtmans

  185
  Citations

• A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

  Claudio Bruno;Claudio Bruno;Andrea Martinuzzi;Yingying Tang;Antoni L. Andreu

  173
  Citations

• Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.

  Steven R. Danielson;Alice Wong;Valerio Carelli;Andrea Martinuzzi

  162
  Citations

• Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

  C Crimella;C Baschirotto;A Arnoldi;A Tonelli

  157
  Citations

• Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

  Claudia Zanna;Anna Maria Ghelli;Anna Maria Porcelli;A. Martinuzzi

  153
  Citations

• Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

  Rosaline Quinlivan;Andrea Martinuzzi;Benedikt Schoser

  149
  Citations

• De novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: Ultrastructural and ultrastructural-cytochemical studies

  Valerie Askanas;Helen Kwan;Renate B. Alvarez;W. King Engel

  148
  Citations

• Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

  Maura Floreani;Eleonora Napoli;Andrea Martinuzzi;Giorgia Pantano

  146
  Citations