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List of works by Massimo Zeviani

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CYTOCHROME c OXIDASE DEFICIENCY

scientific article published on 07 November 2020
Bioenergetic consequences of xenotopic expression of Ciona intestinalis alternative oxidase (AOX) in the mouse

scholarly article
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement

scientific article published on 21 November 2019
Study of an <i>FBXO7</i> patient mutation reveals Fbxo7 and <scp>PI</scp>31 co‐regulate proteasomes and mitochondria

scientific article published on 11 March 2024
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

scientific article published on 09 August 2020
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells

scientific article published in 2021
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis

scientific article published in 2021
ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

scientific article published on 26 March 2020
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

scientific article published in 2021
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey

scientific article published on 27 January 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

scientific article published on 13 October 2020
Mitochondrial ATP production is required for Wnt signaling modulation

scholarly article
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

scientific article published on 07 January 2020
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article
Mitochondrial Neurodegeneration

scientific article published on 11 February 2022
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

scientific article published on 07 October 2020
Mitochondrial disorders of the oxphos system

scientific article published on 07 November 2020
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

scientific article published on 9 January 2012
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.

scientific article published on 3 June 2014
Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster

scientific article published on 17 July 2021
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

scientific article published on 31 July 2020
Duplexing complexome profiling with SILAC to study human respiratory chain assembly defects

scientific article published in 2021
Mitochondrial Retinopathies

scientific article published on 25 December 2021
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

scientific article published on 21 May 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

scientific article published on 25 April 2020
FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

scientific article

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