J
Janine Reunert
Researcher at Boston Children's Hospital
Publications - 39
Citations - 920
Janine Reunert is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Glycosylation & Congenital disorder of glycosylation. The author has an hindex of 15, co-authored 38 publications receiving 729 citations.
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Journal ArticleDOI
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Julien H. Park,Max Hogrebe,Marianne Grüneberg,Ingrid DuChesne,Ava L. von der Heiden,Janine Reunert,Karl P. Schlingmann,Kym M. Boycott,Chandree L. Beaulieu,Aziz Mhanni,A. Micheil Innes,Konstanze Hörtnagel,Saskia Biskup,Eva M. Gleixner,Gerhard Kurlemann,Barbara Fiedler,Heymut Omran,Frank Rutsch,Yoshinao Wada,Konstantinos Tsiakas,René Santer,Daniel W. Nebert,Daniel W. Nebert,Stephan Rust,Thorsten Marquardt +24 more
TL;DR: Variants in SLC39A8 impair the function of manganese-dependent enzymes, most notably β-1,4-galactosyltransferase, a Golgi enzyme essential for biosynthesis of the carbohydrate part of glycoproteins that leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss.
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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Richard W. D. Welford,Marco Garzotti,Charles Marques Lourenço,Eugen Mengel,Thorsten Marquardt,Janine Reunert,Yasmina Amraoui,Stefan A. Kolb,Olivier Morand,Peter M.A. Groenen +9 more
TL;DR: An in-depth fit for purpose biomarker assay validation for measurement of SPC and GlcSph in plasma by liquid chromatography-tandem mass spectrometry indicated excellent potential for the use of lysosphingomyelin in NP-C diagnosis, where it could be used to identifyNP-C patients for confirmatory genetic testing.
Journal ArticleDOI
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Julien H. Park,Max Hogrebe,Manfred Fobker,Renate Brackmann,Barbara Fiedler,Janine Reunert,Stephan Rust,Konstantinos Tsiakas,René Santer,Marianne Grüneberg,Thorsten Marquardt +10 more
TL;DR: High-dose manganese substitution was effective in two patients with SLC39A8 deficiency and considerable clinical improvement regarding motor abilities, hearing, and other neurological manifestations was observed.
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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Maria A. Rujano,Magda Cannata Serio,Ganna Panasyuk,Romain Péanne,Janine Reunert,Daisy Rymen,Virginie Hauser,Julien H. Park,Peter Freisinger,Erika Souche,Maria Clara Guida,Esther M. Maier,Yoshinao Wada,Stefanie Jäger,Nevan J. Krogan,Oliver Kretz,Susana Nobre,Paula Garcia,Dulce Quelhas,Thomas D. Bird,Thomas D. Bird,Wendy H. Raskind,Michael Schwake,Sandrine Duvet,François Foulquier,Gert Matthijs,Thorsten Marquardt,Matias Simons +27 more
TL;DR: The data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy, which is related to liver disease, immunodeficiency, cutis laxa, and psychomotor impairment.
Journal ArticleDOI
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
Katrin Koehler,Meera Malik,Saqib Mahmood,Sebastian Gießelmann,Christian Beetz,J. Christopher Hennings,Antje K. Huebner,Ammi Grahn,Janine Reunert,Gudrun Nürnberg,Holger Thiele,Janine Altmüller,Peter Nürnberg,Rizwan Mumtaz,Dusica Babovic-Vuksanovic,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Guntram Borck,Jürgen Brämswig,Reinhard Mühlenberg,Pierre Sarda,Alma Sikiric,Kwame Anyane-Yeboa,Avraham Zeharia,Arsalan Ahmad,Christine Coubes,Yoshinao Wada,Thorsten Marquardt,Dieter Vanderschaeghe,Emile Van Schaftingen,Ingo Kurth,Angela Huebner,Christian A. Hübner +32 more
TL;DR: A triple-A-like syndrome can be added to the growing list of congenital disorders of glycosylation, in which dysregulation rather than mere enzyme deficiency is the basal pathophysiological mechanism.