Browsing by Author "Roos, Andreas"

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  • A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
    Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Hehir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)
    CSDE1 encodes the cytoplasmic cold shock domain-containing protein E1 (CSDE1), which is highly conserved across species and functions as an RNA-binding protein involved in translationally coupled mRNA turnover. CSDE1 ...
  • Biochemical and pathological changes result from mutated Caveolin-3 in muscle
    González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E.; Münchberg, Ute; Lorenz, Kristina; Buchkremer, Stephan; Carr, Stephanie; Zahedi, René P.; Brauers, Eva; Michels, Hannah; Sunada, Yoshihide; Lochmüller, Hanns; Campbell, Kevin P.; Freier, Erik; Hathazi, Denisa; Roos, Andreas (BioMed Central, 2018)
    Background: Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies ...
  • Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
    Schorling, David; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; SMArtCARE consortium; Sickmann, Albert; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas (Wiley, 2022)
    Background and purpose: The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision-making ...
  • Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
    Kakouri, Andrea C.; Koutalianos, Demetris; Koutsoulidou, Andrie; Oulas, Anastasis; Tomazou, Marios; Nikolenko, Nikoletta; Turner, Chris; Roos, Andreas; Lusakowska, Anna; Janiszewska, Katarzyna; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Papanicolaou, Eleni Zamba; Gorman, Grainne S.; Lochmüller, Hanns; Spyrou, George M.; Phylactou, Leonidas A. (Taylor and Francis, 2022)
    Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral ...
  • Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD
    Coenen-Stass, Anna M.L.; Sork, Helena; Gatto, Sole; Godfrey, Caroline; Bhomra, Amarjit; Krjutškov, Kaarel; Hart, Jonathan R.; Westholm, Jakub O.; O'Donovan, Liz; Roos, Andreas; Lochmüller, Hanns; Puri, Pier Lorenzo; El Andaloussi, Samir; Wood, Matthew J.A.; Roberts, Thomas C. (Elsevier, 2018)
    Extracellular small RNAs (sRNAs), including microRNAs (miRNAs), are promising biomarkers for diseases such as Duchenne muscular dystrophy (DMD), although their biological relevance is largely unknown. To investigate the ...
  • Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
    Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas (Nature Research, 2021)
    TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been ...
  • GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
    Issop, Yasmin; Hathazi, Denisa; Khan, Muzamil Majid; Rudolf, Rüdiger; Weis, Joachim; Spendiff, Sally; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (Oxford University Press, 2018)
    Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other ...
  • GNE myopathy: from clinics and genetics to pathology and research strategies
    Pogoryelova, Oksana; González Coraspe, José Andrés; Nikolenko, Nikoletta; Lochmüller, Hanns; Roos, Andreas (BioMed Central, 2018)
    GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward ...
  • Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
    Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)
    Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein ...
  • Long term follow-up on pediatric cases with congenital myasthenic syndromes-a retrospective single centre cohort study
    Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kölbel, Heike; Lochmüller, Hanns; Roos, Andreas; Schara-Schmidt, Ulrike (Frontiers Media, 2020)
    Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild ...
  • Modulation of agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish
    O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (MDPI, 2019)
    Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the ...
  • Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome
    Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns (Frontiers Media, 2020)
    Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early ...
  • Molecular pathophysiology of human MICU1 deficiency
    Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas (Wiley, 2021)
    Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, ...
  • Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
    Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita (Wolters Kluwer (LWW), 2018)
    Objective: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor ...
  • Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons
    Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita (Oxford University Press, 2018)
    The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA ...
  • Neuromuscular junction changes in a mouse model of charcot-marie-tooth disease type 4C
    Cipriani, Silvia; Phan, Vietxuan; Médard, Jean-Jacques; Horvath, Rita; Lochmüller, Hanns; Chrast, Roman; Roos, Andreas; Spendiff, Sally (MDPI, 2018)
    The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations ...
  • Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
    Arlt, Annabelle; Kohlschmidt, Nicolai; Hentschel, Andreas; Bartels, Enrika; Groß, Claudia; Töpf, Ana; Edem, Pinar; Szabo, Nora; Sickmann, Albert; Meyer, Nancy; Schara-Schmidt, Ulrike; Lau, Jarred; Lochmüller, Hanns; Horvath, Rita; Oktay, Yavuz; Roos, Andreas; Hiz, Semra (BioMed Central, 2022)
    Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal ...
  • Serum miRNAs as biomarkers for the rare types of muscular dystrophy
    Koutsoulidou, Andrie; Koutalianos, Demetris; Georgiou, Kristia; Kakouri, Andrea C.; Oulas, Anastasis; Tomazou, Marios; Kyriakides, Tassos C.; Roos, Andreas; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Spyrou, George M.; Papanicolaou, Eleni Zamba; Lochmüller, Hanns; Phylactou, Leonidas A. (Elsevier, 2022)
    Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. ...
  • Severe neurodevelopmental disease caused by a homozygous TLK2 variant
    Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...