4 results match your criteria: "King's College London School of Basic and Medical Biosciences[Affiliation]"
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
NPJ Parkinsons Dis
May 2019
11The Perron Institute for Neurological and Translational Science, 8 Verdun Street, Nedlands, WA 6009 Australia.
Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson's disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease.
View Article and Find Full Text PDFThe ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.
Eur Respir J
March 2019
Dept of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Chronic thromboembolic pulmonary hypertension (CTEPH) is an important consequence of pulmonary embolism that is associated with abnormalities in haemostasis. We investigated the ADAMTS13-von Willebrand factor (VWF) axis in CTEPH, including its relationship with disease severity, inflammation, groups and genetic variants.ADAMTS13 and VWF plasma antigen levels were measured in patients with CTEPH (n=208), chronic thromboembolic disease without pulmonary hypertension (CTED) (n=35), resolved pulmonary embolism (n=28), idiopathic pulmonary arterial hypertension (n=30) and healthy controls (n=68).
View Article and Find Full Text PDFDe novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.
Neurol Genet
August 2018
Harvard Chan School of Public Health (E.L.), Harvard University, Boston, MA; Department of Paediatrics (A.W.), University Hospital Southampton NHS Foundation Trust; Nuffield Department Women's + Reproductive Health (E.D., J.C., J.P.), University of Oxford, The Women's Centre; Department of Neuropathology (M.H.), Oxford University Hospitals NHS Foundation Trust; Oxford Children's Hospital (G.A., S.J.), Oxford University Hospitals NHS Foundation Trust; Wessex Clinical Genetics Service (V.H.), University Hospital Southampton NHS Foundation Trust; and Department of Medical and Molecular Genetics (C.F., I.A.B., M.S.), King's College London School of Basic and Medical Biosciences, London, United Kingdom.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
March 2018
Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
ATP synthase, H transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.
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