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Metodi D Metodiev

Explore the profile of Metodi D Metodiev including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 27
Citations 1172
Followers 0
Related Specialties
Genetics
Molecular Biology
Cell Biology
Top 10 Co-Authors
Agnes Rotig
Benedetta Ruzzenente
Arnold Munnich
Marlene Rio
Zahra Assouline
Nathalie Boddaert
Giulia Barcia
Nils-Goran Larsson
Pascale de Lonlay
Aleksandra Filipovska
Published In
Am J Hum Genet
Hum Mol Genet
Cell Metab
Eur J Hum Genet
Hum Mutat
Affiliations
Soon will be listed here.
Recent Articles
1.
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy
Cafournet C, Zanin S, Guimier A, Hully M, Assouline Z, Barcia G, et al.
Life (Basel) . 2023 Feb; 13(2). PMID: 36836802
Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5'- and 3'-ends of tRNA sequences...
2.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
Boutaud L, Ruzzenente B, Tessier A, Anselem O, Pannier E, Grotto S, et al.
Brain . 2022 Nov; 146(5):1804-1811. PMID: 36349561
Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes...
3.
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells
Pulman J, Ruzzenente B, Horak M, Barcia G, Boddaert N, Munnich A, et al.
Mol Genet Metab . 2021 Oct; 134(3):267-273. PMID: 34620555
Most mitochondrial proteins are synthesized in the cytosol and targeted to mitochondria via N-terminal mitochondrial targeting signals (MTS) that are proteolytically removed upon import. Sometimes, MTS removal is followed by...
4.
Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice
Ruzzenente B, Metodiev M
Methods Mol Biol . 2021 Feb; 2224:47-60. PMID: 33606205
Like bacterial and cytoplasmic ribosomes, mitoribosomes are large ribonucleoprotein complexes with molecular weights in the range of several million Daltons. Traditionally, studying the assembly of such high molecular weight complexes...
5.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux C, de Lonlay P, et al.
Eur J Hum Genet . 2020 Nov; 29(3):533-538. PMID: 33168986
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial...
6.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations
Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas V, et al.
Hum Mutat . 2019 Nov; 41(2):397-402. PMID: 31680380
Pathogenic GFM1 variants have been linked to neurological phenotypes with or without liver involvement, but only a few cases have been reported in the literature. Here, we report clinical, biochemical,...
7.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement
Pulman J, Ruzzenente B, Bianchi L, Rio M, Boddaert N, Munnich A, et al.
Hum Mol Genet . 2018 Dec; 28(9):1445-1462. PMID: 30566640
Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and...
8.
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis
Ruzzenente B, Assouline Z, Barcia G, Rio M, Boddaert N, Munnich A, et al.
Hum Mutat . 2018 Sep; 39(12):2047-2059. PMID: 30252186
Aminoacyl-tRNA synthetases are ubiquitous enzymes, which universally charge tRNAs with their cognate amino acids for use in cytosolic or organellar translation. In humans, mutations in mitochondrial tRNA synthetases have been...
9.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Lake N, Webb B, Stroud D, Richman T, Ruzzenente B, Compton A, et al.
Am J Hum Genet . 2018 Apr; 102(4):713. PMID: 29625026
No abstract available.
10.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, et al.
Am J Hum Genet . 2018 Mar; 102(4):685-695. PMID: 29576219
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in...