Presentation
Martin has started his scientific career at Masaryk University in Brno, Czech Republic, where he obtained his Ph.D. in Molecular and Cellular Biology and Genetics in 2019. His project was focused on the characterization of the role of Follistatin like 1 in mitochondria and its involvement in cardiovascular diseases. During his Ph.D. studies, he became interested in how mitochondrial dysfunction leads to impaired energy production and mitochondrial disease. In 2019, he was awarded a fellowship from the French Muscular Dystrophy Association (AFM-TELETHON), which enabled him to join the laboratory of Dr. Agnès RÖTIG for his postdoctoral research.
His current post-doctoral research conducted under the supervision of Dr. Metodi METODIEV is focused on the processing of nuclear-encoded proteins imported to mitochondria as well as the impact of its dysregulation on the mitochondrial functions. Since the vast majority of mitochondrial proteins are encoded by the nucleus, dysfunction of one or more peptidases responsible for their proper maturation can affect various mitochondrial functions including the impairment of the oxidative phosphorylation (OXPHOS) activity and, ultimately, cause mitochondrial disease. Better characterization of the mitochondrial post-translational processing in general as well as identification of currently unknown substrates for individual peptidases has a wider application to understanding mitochondrial diseases in general and the development of therapies for these incurable pathologies.
Resources & publications
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Journal (source)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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Journal (source)EMBO J.
Cell type-specific regulation of ciliary transition zone assembly in vertebra...
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Journal (source)Am. J. Physiol. Renal Physiol.
Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec...
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Journal (source)Hum. Mol. Genet.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT...
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Journal (source)Hum. Mol. Genet.
A human patient-derived cellular model of Joubert syndrome reveals ciliary de...
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Journal (source)Nat Commun
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone...
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Journal (source)Hum. Mutat.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
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Journal (source)PLoS Genet.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...
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Journal (source)Nat. Cell Biol.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ...
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Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
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Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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Journal (source)Stud Health Technol Inform
Identification of Similar Patients Through Medical Concept Embedding from Ele...
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Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
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Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...
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Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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Journal (source)Hum Mol Genet
The renal inflammatory network of nephronophthisis.
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Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
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Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
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Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.