Metodi D. Metodiev

发表

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

Mouse models for mitochondrial diseases.

A. Rötig, Metodi D. Metodiev, Benedetta Ruzzenente, 2016, Human molecular genetics.

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice.

Metodi D. Metodiev, Benedetta Ruzzenente, 2021, Methods in molecular biology.

Role of prohibitins for proteolysis in yeast and murine mitochondria

Metodi D. Metodiev, 2006 .

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing

H. Fuchs, S. Douthwaite, V. Gailus-Durner, 2015, Human molecular genetics.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2018, Journal of Medical Genetics.

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.

L. Eliasson, N. Wierup, J. Fadista, 2014, Human molecular genetics.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly

B. Habermann, J. Altmueller, N. Larsson, 2014, PLoS genetics.

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome.

B. Habermann, H. Erdjument-Bromage, P. Tempst, 2011, Cell metabolism.

Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia

E. Rugarli, T. Langer, G. Casari, 2006, Molecular and Cellular Biology.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

A. Munnich, N. Boddaert, A. Rötig, 2018, Human molecular genetics.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

H. Erdjument-Bromage, P. Tempst, C. Gustafsson, 2012, The EMBO journal.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

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

A. Munnich, N. Boddaert, A. Rötig, 2018, Human mutation.

A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.

Allan Vaag, Johanna Kuusisto, Alena Stančáková, 2011, Cell metabolism.

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.

A. Munnich, N. Boddaert, A. Rötig, 2021, Molecular genetics and metabolism.

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.

Yonghong Shi, Kjell Hultenby, C. Gustafsson, 2009, Cell metabolism.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

A. Munnich, N. Boddaert, A. Rötig, 2018, American journal of human genetics.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals

L. Partridge, E. Kremmer, B. Habermann, 2013, PLoS genetics.

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

A. Munnich, H. Prokisch, A. Rötig, 2015, European Journal of Human Genetics.

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

A. Munnich, A. Rötig, B. Bader-Meunier, 2014, European Journal of Human Genetics.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Ulrich Brandt, Sergio Guerrero-Castillo, Benoît Funalot, 2016, American journal of human genetics.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

The effects of ROMO1 on cervical cancer progression.

V. Shivarov, Metodi D. Metodiev, A. Yordanov, 2023, Pathology, research and practice.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

R. Rodenburg, A. Rötig, B. Funalot, 2016, American journal of human genetics.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.

L. Groop, M. Laakso, C. Ling, 2011, Cell metabolism.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020, European Journal of Human Genetics.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020 .