A. Spinazzola

发表

Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah Calvo, Steven A Carr, Xiaohui Xie, 2006, Nature Genetics.

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

I. Nishino, A. Spinazzola, M. Hirano, 1999, Science.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Sarah Calvo, Paolo Gasparini, Massimo Zeviani, 2006, Nature Genetics.

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

M. Sandri, L. Vergani, A. Spinazzola, 2016, Autophagy.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

J. Holton, Sachit Shah, H. Houlden, 2019, Human molecular genetics.

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

V. Tiranti, M. Zeviani, E. Lamantea, 2009, Biochimica et biophysica acta.

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

P. Tonali, E. Ricci, S. Servidei, 1996, Biochemical and biophysical research communications.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

M. Zeviani, A. Rötig, R. Horvath, 2009, Biochimica et biophysica acta.

Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes.

M. Zeviani, A. Spinazzola, 2009, Advances in experimental medicine and biology.

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

M. Zeviani, M. Mora, R. Vettor, 2008, Human molecular genetics.

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Martin A. M. Reijns, Martin S. Taylor, Robert S. Young, 2017, Nucleic acids research.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

J. Ganesh, M. Zeviani, Xiaoqi Q Ding, 2008, Archives of neurology.

Molecular Diagnosis of Mitochondrial Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis

Y. Pommier, L. Neckers, V. Factor, 2019, Nature Communications.

Oligomycin Induces a Decrease in the Cellular Content of a Pathogenic Mutation in the Human Mitochondrial ATPase 6 Gene*

E. Schon, A. Spinazzola, D. D. De Vivo, 1999, The Journal of Biological Chemistry.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

Robert W. Taylor, L. Hedstrom, P. Chinnery, 2019, Clinical genetics.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart

J. Ruíz-Cabello, A. Spinazzola, P. Ramos-Cabrer, 2022, Scientific Reports.

Assay of mitochondrial ATP synthesis in animal cells.

A. Spinazzola, G. Manfredi, A. Naini, 2001, Methods in cell biology.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Robert W. Taylor, J. Lupski, S. Ellard, 2020, American journal of human genetics.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

H. Houlden, M. Hanna, R. Crouch, 2016, Proceedings of the National Academy of Sciences.

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

I. Nishino, A. Spinazzola, M. Hirano, 2004, Clinical chemistry.

Disorders of Nuclear-Mitochondrial Intergenomic Communication

M. Zeviani, A. Spinazzola, 2007, Bioscience reports.

LETM1 couples mitochondrial DNA metabolism and nutrient preference

H. Houlden, A. Spinazzola, I. Holt, 2018, EMBO molecular medicine.

Proceedings of the Frontiers of Retrovirology Conference 2016

R. König, D. Elleder, R. Sachidanandam, 2016, Retrovirology.

Thymidine Phosphorylase Deficiency Causes MNGIE: An Autosomal Recessive Mitochondrial Disorder

I. Nishino, A. Spinazzola, M. Hirano, 2004, Nucleosides, nucleotides & nucleic acids.

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

I. Nishino, J. A. Oliver, A. Andreu, 2002, Mitochondrion.

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

S. Dimauro, I. Nonaka, I. Nishino, 2000, Annals of neurology.

MNGIE: from nuclear DNA to mitochondrial DNA

I. Nishino, A. Spinazzola, M. Hirano, 2001, Neuromuscular Disorders.

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase*

I. Nishino, J. A. Oliver, A. Andreu, 2002, The Journal of Biological Chemistry.

Review article MNGIE: from nuclear DNA to mitochondrial DNA

I. Nishino, A. Spinazzola, M. Hirano, 2001 .

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Robert W. Taylor, G. Elgar, D. Thorburn, 2016, PLoS genetics.

Clinical and molecular features of mitochondrial DNA depletion syndromes

M. Zeviani, E. Lamantea, A. Spinazzola, 2009, Journal of Inherited Metabolic Disease.

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

M. Zeviani, L. Notarangelo, G. Uziel, 2009, Journal of hepatology.

Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk

M. Zeviani, A. Spinazzola, 2009, Journal of internal medicine.

Nuclear genes in mitochondrial disorders.

Massimo Zeviani, Valerio Carelli, M. Zeviani, 2003, Current opinion in genetics & development.

Disorders of nuclear-mitochondrial intergenomic signaling.

M. Zeviani, A. Spinazzola, 2005, Gene.

Mitochondrial diseases: Translation matters

A. Spinazzola, Sarah F Pearce, C. Nezich, 2013, Molecular and Cellular Neuroscience.

Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication

A. Reyes, L. Kazak, J. N. Spelbrink, 2018, Nucleic Acids Research.

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis

J. Walker, K. Neuman, A. Reyes, 2012, Nucleic acids research.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Robert W. Taylor, Sachit Shah, H. Houlden, 2021, Molecular Biology Reports.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

H. Mohrenweiser, P. Tonali, B. Dallapiccola, 1999, Neurology.

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Ann E. Frazier, D. Thorburn, A. Spinazzola, 2017, Brain : a journal of neurology.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

G. Plant, M. Zeviani, K. Thangaraj, 2017, Neurology: Genetics.

Mitochondrial disorders

M. Zeviani, A. Spinazzola, 2001, Current neurology and neuroscience reports.

A pathological RNASEH1 mutant causes R-loop depletion and aberrant DNA segregation in mitochondria

Mara, H. Houlden, M. Hanna, 2017 .

Mechanisms of onset and accumulation of mtDNA mutations

A. Spinazzola, I. Holt, 2020 .

Beyond the unwinding: role of TOP1MT in mitochondrial translation

Y. Pommier, A. Spinazzola, I. Dalla Rosa, 2019, Cell cycle.

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

Iain G. Johnston, Robert W. Taylor, I. Johnston, 2021, Nature Communications.

The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis

Y. Pommier, L. Neckers, L. Jenkins, 2019, Nature Communications.

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

S. Di Giovanni, P. Tonali, A. Broccolini, 2001, Neurology.

MPV17L2 is required for ribosome assembly in mitochondria

M. Huynen, M. Minczuk, A. Reyes, 2014, Nucleic acids research.

Amino Acid Starvation Has Opposite Effects on Mitochondrial and Cytosolic Protein Synthesis

M. Minczuk, A. Reyes, G. Brea-Calvo, 2014, PloS one.

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

M. Zeviani, A. Spinazzola, M. Hirano, 2008, Neuromuscular Disorders.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Disorders of Replication, Transcription and Translation of Mitochondrial DNA

J. N. Spelbrink, A. Spinazzola, M. Janssen, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Mitochondrial DNA mutations and depletion in pediatric medicine.

A. Spinazzola, 2011, Seminars in fetal & neonatal medicine.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

M. Zeviani, H. Mandel, R. Lodi, 2020, Journal of inherited metabolic disease.

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

V. Álvarez, F. Grandas, J. Infante, 2019, Movement disorders : official journal of the Movement Disorder Society.

Morphological observations in mitochondrial diseases

P. Tonali, E. Ricci, A. Broccolini, 1995 .

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

J. Ganesh, M. Zeviani, Xiaoqi Q Ding, 2017 .

Proceedings of the Frontiers of Retrovirology Conference 2016

Sebastian A. Wagner, R. König, D. Elleder, 2016, Retrovirology.

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation

M. Zeviani, M. Mora, A. Spinazzola, 2004, Neuromuscular Disorders.

Mitochondrial disorders.

M. Zeviani, A. Spinazzola, Valerio Carelli, 2004, Brain : a journal of neurology.

Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

V. Álvarez, F. Grandas, J. Infante, 2019, Movement disorders : official journal of the Movement Disorder Society.

Mitochondrial DNA mutations and depletion in pediatric medicine.

A. Spinazzola, 2011, Seminars in fetal & neonatal medicine.

64 Systematic identification of human mitochondrial disease genes through integrative genomics

S. Carr, V. Mootha, M. Zeviani, 2007 .