Výsledky vyhledávání - "David R. Thorburn"

Akademický článek

A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders

Autor: Francisco Santos Gonzalez, Daniella H. Hock, David R. Thorburn, Dylan Mordaunt, Nicholas A. Williamson, Ching-Seng Ang, David A. Stroud, John Christodoulou, Ilias Goranitis

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Abstract Background Mass spectrometry-based quantitative proteomics has a demonstrated utility in increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases. However, for this technology to be widely adopted in routine c

Externí odkaz: https://doaj.org/article/470c8a53592f4a88baa7acba4e6aac48

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Akademický článek

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Autor: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen

Publikováno v: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)

Abstract Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gen

Externí odkaz: https://doaj.org/article/4f5342b87e7f4e589989796569d7e800

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Akademický článek

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu

Externí odkaz: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce

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Akademický článek

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

Autor: Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson

Publikováno v: JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)

Abstract The C‐terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been show

Externí odkaz: https://doaj.org/article/df0e1594280e47c0a558ea4c173944ec

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Akademický článek

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

Autor: Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)

Abstract Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clin

Externí odkaz: https://doaj.org/article/5e92826c8aaa46bd8ced6c614e9e01de

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Akademický článek

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

Publikováno v: JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)

Abstract Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist i

Externí odkaz: https://doaj.org/article/b096ed78eb604ff08a47d2a4cab9b501

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Akademický článek

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

Autor: Cesare Granata, Nikeisha J. Caruana, Javier Botella, Nicholas A. Jamnick, Kevin Huynh, Jujiao Kuang, Hans A. Janssen, Boris Reljic, Natalie A. Mellett, Adrienne Laskowski, Tegan L. Stait, Ann E. Frazier, Melinda T. Coughlan, Peter J. Meikle, David R. Thorburn, David A. Stroud, David J. Bishop

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)

Exercise training can be therapeutic but how mitochondria respond remains unclear. Here, the authors use multiple omics techniques to reveal a complex network of non-stoichiometric mitochondrial adaptations that are prioritized or deprioritised durin

Externí odkaz: https://doaj.org/article/bea2037780444510914f0ea9d4120a6f

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Akademický článek

Mitochondrial biology and dysfunction in secondary mitochondrial disease

Autor: Megan J. Baker, Jordan J. Crameri, David R. Thorburn, Ann E. Frazier, Diana Stojanovski

Publikováno v: Open Biology, Vol 12, Iss 12 (2022)

Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial disease (PMD) defines pathologies resulting from mutation of mitochondri

Externí odkaz: https://doaj.org/article/50fbab3eae4841b0976ca1bdaf33b93d

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