ArticleAmerican journal of human genetics2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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40citing papers in PubMed, 1 pooled it
4.0field-weighted citation impact, top 6% of its field
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Genetic and Clinical Advances of Congenital Muscular Dystrophy.Chinese medical journal · 2017Pooled it
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.MedScience · 2026Article
- Whole-genome sequencing reveals an East Asian-specific rare variant of INPP5J associated with Alzheimer's disease.Translational psychiatry · 2026Article
- Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.Journal of human genetics · 2026Article
- PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.Clinical genetics · 2025Article
- Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis.Journal of cachexia, sarcopenia and muscle · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Modulating PAK1: Accessory Proteins as Promising Therapeutic Targets.Biomolecules · 2025Review
- Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Knockdown of INPP5K compromises the differentiation of N2A cells.Frontiers in molecular neuroscience · 2024Article
- Atl (atlastin) regulates mTor signaling and autophagy in Drosophila muscle through alteration of the lysosomal network.Autophagy · 2024Article
- Phosphoinositides in New Spaces.Cold Spring Harbor perspectives in biology · 2023Review
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.American journal of human genetics · 2023Article
- Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.Development genes and evolution · 2023Article
- Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays.International journal of molecular sciences · 2023Review
- Autophagic lysosome reformation in health and disease.Autophagy · 2023Review
- PI(4,5)PScience advances · 2023Article
- Loss of INPP5K attenuates IPBBA advances · 2023Article
- PI(4,5)P2: signaling the plasma membrane.The Biochemical journal · 2022Article
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Authors and funding
38 authors at 15 institutions in 4 countries.
Manuela WiessnerFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Andreas RoosJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Leibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
Christopher J MunnDepartment of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown Street, Liverpool L69 3BX, UK.
Ranjith ViswanathanFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Tamieka WhyteUCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Dan CoxJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Benedikt SchoserFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Caroline SewryUCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK; Wolfson Centre for Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK.
Helen RoperBirmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham B9 5SS, UK.
Rahul PhadkeUCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK.
Chiara Marini BettoloJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Rita BarresiJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Richard CharltonJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20814, USA.
Osório Abath NetoNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20814, USA.
Umbertina C ReedDepartamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, 01246-903 São Paulo, Brazil.
Edmar ZanoteliDepartamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, 01246-903 São Paulo, Brazil.
Cristiane Araújo Martins MorenoDepartamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, 01246-903 São Paulo, Brazil.
Birgit Ertl-WagnerInstitute for Clinical Radiology, Ludwig Maximilians University Munich, 81377 Munich, Germany.
Rolf StuckaFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Christian De GoedeDepartment of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston PR2 9HT, UK; Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YG, UK.
Tamiris Borges da SilvaDepartment of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown Street, Liverpool L69 3BX, UK.
Denisa HathaziLeibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
Margherita Dell'AicaLeibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
René P ZahediLeibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
Simone ThieleFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Juliane MüllerJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Helen KingstonManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
Susanna MüllerInstitute of Pathology, Ludwig-Maximilians University Munich, 80337 Munich, Germany.
Elizabeth CurtisDepartment of Cellular Pathology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK.
Maggie C WalterFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Kate BushbyJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Francesco MuntoniUCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Laura E SwanDepartment of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown Street, Liverpool L69 3BX, UK.
Hanns LochmüllerJohn Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Jan SenderekFriedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address: jan.senderek@med.uni-muenchen.de.
Newcastle University · GBLudwig-Maximilians-Universität München · DEHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRLeibniz Institute for Analytical Sciences - ISAS · DEUniversity of Liverpool · GBFriedrich Baur Stiftung · DEGreat Ormond Street Hospital · GBNational Institute of Neurological Disorders and Stroke · USUniversity College London · GBHeartlands Hospital · GBHelmholtz Zentrum München · DELancashire Teaching Hospitals NHS Foundation Trust · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBQueen Elizabeth Hospital Birmingham · GBSt Mary's Hospital · GB
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MMedical Research Council MR/N010035/1Wellcome Trust
Abstract
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosphate-5-phosphatase K. Mutations impaired phosphatase activity toward the phosphoinositide phosphatidylinositol (4,5)-bisphosphate or altered the subcellular localization of INPP5K. Downregulation of INPP5K orthologs in zebrafish embryos disrupted muscle fiber morphology and resulted in abnormal eye development. These data link congenital muscular dystrophies to defective phosphoinositide 5-phosphatase activity that is becoming increasingly recognized for its role in mediating pivotal cellular mechanisms contributing to disease.
Indexed as
AdolescentAdultAllelesAnimalsBrainCataractChildChild, PreschoolCognitive DysfunctionDisease Models, AnimalDown-RegulationFemaleGenome-Wide Association StudyHumansInfantIntellectual DisabilityPhosphoric Monoester HydrolasesSKIP enzyme, humancognitive impairmentcongenital muscular dystrophyearly cataractsINPP5Kphosphoinositide phosphatase
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