Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

Alcohol Oxidoreductases / deficiency Animals Blood Platelets / metabolism Cell Differentiation Cells, Cultured Child Female Humans Induced Pluripotent Stem Cells / metabolism Male Megakaryocytes / metabolism Metabolomics Mutation Pedigree Prognosis Sphingolipids / metabolism Thrombocytopenia / etiology Zebrafish

Journal

Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435

Informations de publication

Date de publication:
05 2019
Historique:
received: 17 08 2018
accepted: 19 11 2018
pubmed: 24 11 2018
medline: 21 5 2020
entrez: 24 11 2018
Statut: ppublish

Résumé

Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for

Identifiants

DOI: 10.3324/haematol.2018.204784 PMID: 30467204 PMC: PMC6518879
pubmed: 30467204
pii: haematol.2018.204784
doi: 10.3324/haematol.2018.204784
pmc: PMC6518879
doi:

Substances chimiques

Sphingolipids 0
Alcohol Oxidoreductases EC 1.1.-
3-ketodihydrosphingosine reductase EC 1.1.1.-

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1036-1045

Subventions

Organisme : British Heart Foundation
ID : FS/18/53/33863
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_12009
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12012/5
Pays : United Kingdom

Informations de copyright

Copyright© 2019 Ferrata Storti Foundation.

Références

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Auteurs

Tadbir K Bariana (TK)

Department of Haematology, University College London, UK.
The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.
Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.

Veerle Labarque (V)

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

Jessica Heremans (J)

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

Chantal Thys (C)

NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

Mara De Reys (M)

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

Daniel Greene (D)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.

Benjamin Jenkins (B)

NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK.

Luigi Grassi (L)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.

Denis Seyres (D)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.

Frances Burden (F)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.

Deborah Whitehorn (D)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.

Olga Shamardina (O)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.

Sofia Papadia (S)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.

Keith Gomez (K)

Department of Haematology, University College London, UK.
The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.

Nihr BioResource (N)

NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.

Chris Van Geet (C)

NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

Albert Koulman (A)

NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK.

Willem H Ouwehand (WH)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Cedric Ghevaert (C)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.

Mattia Frontini (M)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.

Ernest Turro (E)

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.
NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.
NHS Blood and Transplant, Cambridge Biomedical Campus, UK.
Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.

Kathleen Freson (K)

NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK kathleen.freson@med.kuleuven.be.
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Alcohol oxidoreductases › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Eucaryotes › Animaux › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Sang › Cellules sanguines › Plaquettes › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Cellules › Cellules cultivées › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Mégacaryocytes › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Disciplines des sciences naturelles › Chimie › Biochimie › Métabolomique › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Diagnostic › Pronostic › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Anomalies des plaquettes › Thrombopénie › Sphingolipid dysregulation due to lack of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › Sphingolipid dysregulation due to lack of...