Andreas Roos
Adjunct Professor, University of Ottawa
Scientific Officer, Department of Neuropediatrics, University Hospital Essen
Email AndreasAndreas completed his PhD in 2009 with Professor Jan Senderek in the Neurogenetics group of the Institute of Human Genetics of RWTH-Aachen University in Germany, where his thesis focused on the elucidation of molecular and biochemical mechanisms in autosomal recessive Charcot-Marie-Tooth neuropathies. Following a postdoc in the Institute of Molecular Biology and Medical Biochemistry at the University of Saarland, he became a junior group leader at the Institute of Neuropathology at RWTH-Aachen University. Subsequently, he took on the role of group lead of the Tissue Omics group at the Leibniz Institute of Analytical Science (ISAS) in Dortmund, focusing on applied proteomics toward a better understanding of the molecular genesis of neuromuscular diseases. In 2015 he moved to Newcastle upon Tyne (UK) as Scientific Officer in the John Walton Muscular Dystrophy Research Centre under Professor Hanns Lochmüller. After moving to Essen in Germany in 2018 to become Scientific Officer in the University Hospital Essen’s Department of Neuropediatrics, together with Prof. Ulrike Schara he was awarded a 2.9M Euro grant from the European Regional Development Fund for NMD-GPS, a major interdisciplinary multi-omics project aiming to improve the diagnostic management of patients with neuromuscular diseases as well as to group these diseases according to their underlying pathomechanisms.
In 2019 Andreas was awarded an adjunct professorship at the University of Ottawa, where he will be an external/visiting member of the Lochmüller Lab team, teaching applied proteomics in the context of neuromuscular diseases, co-supervising students and continuing his many close scientific collaborations with the group.
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Recent publications
Hathazi, D, Cox, D, D'Amico, A, Tasca, G, Charlton, R, Carlier, RY et al.. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021. PMID:33792664
Straka, T, Schröder, C, Roos, A, Kollipara, L, Sickmann, A, Williams, MPI et al.. Regulatory Function of Sympathetic Innervation on the Endo/Lysosomal Trafficking of Acetylcholine Receptor. Front Physiol. 2021.12 626707 PMID:33776791
Grande, V, Hathazi, D, O Connor, E, Marteau, T, Schara-Schmidt, U, Hentschel, A et al.. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021. PMID:33682722
Hentschel, A, Czech, A, Münchberg, U, Freier, E, Schara-Schmidt, U, Sickmann, A et al.. Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases. Orphanet J Rare Dis. 2021.16 (1)73 PMID:33563298
Gungor, S, Oktay, Y, Hiz, S, Aranguren-Ibáñez, Á, Kalafatcilar, I, Yaramis, A et al.. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience. 2021.24 (1)101948 PMID:33458610
Kohlschmidt, N, Elbracht, M, Czech, A, Häusler, M, Phan, V, Töpf, A et al.. Molecular pathophysiology of human MICU1 deficiency. Neuropathol Appl Neurobiol. 2021. PMID:33428302
Gangfuß, A, Yigit, G, Altmüller, J, Nürnberg, P, Czeschik, JC, Wollnik, B et al.. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am J Med Genet A. 2021.185 (4)1216-1221 PMID:33427397
Spendiff, S, Howarth, R, McMacken, G, Davey, T, Quinlan, K, O'Connor, E et al.. Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Front Mol Neurosci. 2020.13 594220 PMID:33390901
Della Marina, A, Wibbeler, E, Abicht, A, Kölbel, H, Lochmüller, H, Roos, A et al.. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020.14 560860 PMID:33364925
Mroczek, M, Zafeiriou, D, Gurgel-Gianetti, J, Vilela Morais de Azevedo, B, Roos, A, Bartels, E et al.. Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease. Neuropediatrics. 2020. PMID:33352606
Vogt, G, El Choubassi, N, Herczegfalvi, Á, Kölbel, H, Lekaj, A, Schara, U et al.. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis. 2020. PMID:33320377
Gangfuss, A, Schmitt, D, Roos, A, Braun, F, Annoussamy, M, Servais, L et al.. Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience. J Neuromuscul Dis. 2021.8 (1)79-90 PMID:33164942
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