ArticleAmerican journal of human genetics2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46citing papers in PubMed
2.3field-weighted citation impact, top 9% of its field
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46 citing papers in PubMed, 59 citations in OpenAlex.
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- NovelNeurology. Genetics · 2026Article
- PARG regulates the proteasomal degradation of TARG1.Cell reports · 2026Article
- Tipping the PARylation scale: Dysregulation of PAR signaling in Huntington and neurodegenerative diseases.Journal of Huntington's disease · 2025Review
- Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.Cerebellum (London, England) · 2025Article
- Family-wide analysis of human macrodomains reveals novel activities and identifies PARG as most efficient ADPr-RNA hydrolase.Communications biology · 2025Article
- ADP-ribose hydrolases: biological functions and potential therapeutic targets.Expert reviews in molecular medicine · 2024Review
- Novel heterozygous variant ofHeliyon · 2024Article
- Pathological and physiological roles of ADP-ribosylation: established functions and new insights.Biological chemistry · 2024Review
- Mono-ADP-ribosylation, a MARylationmultifaced modification of protein, DNA and RNA: characterizations, functions and mechanisms.Cell death discovery · 2024Review
- Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).Cerebellum (London, England) · 2024Article
- Solid-Phase Synthesis and Biological Evaluation of Peptides ADP-Ribosylated at Histidine.Angewandte Chemie (Weinheim an der Bergstrasse, Germany) · 2024Article
- Solid-Phase Synthesis and Biological Evaluation of Peptides ADP-Ribosylated at Histidine.Angewandte Chemie (International ed. in English) · 2024Article
- Molecular mechanisms of cell death by parthanatos: More questions than answers.Genetics and molecular biology · 2024Article
- Review
- The function and regulation of ADP-ribosylation in the DNA damage response.Biochemical Society transactions · 2023Article
- Serine ADP-ribosylation in Drosophila provides insights into the evolution of reversible ADP-ribosylation signalling.Nature communications · 2023Article
- Modular antibodies reveal DNA damage-induced mono-ADP-ribosylation as a second wave of PARP1 signaling.Molecular cell · 2023Article
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
Corrections and comments
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Authors and funding
36 authors at 18 institutions in 5 countries.
Katharina DanhauserInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, 80337 Munich, Germany.
Bader AlhaddadInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Christine MakowskiDepartment of Pediatrics, Technische Universität München, 80804 Munich, Germany.
Dorota Piekutowska-AbramczukDepartment of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Steffen SyrbeDivision of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
Natalia Gomez-OspinaDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Melanie A ManningDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Anna Kostera-PruszczykDepartment of Neurology, Medical University of Warsaw, 02-097 Warsaw, Poland.
Claudia Krahn-PeperSozialpädiatrisches Zentrum, Heilpädagogisch Therapeutisches Zentrum gGmbH, 56564 Neuwied, Germany.
Riccardo BeruttiInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Reka Kovács-NagyInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Mirjana GusicInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Elisabeth GrafInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Lucia LaugwitzDivision of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
Michaela RöblitzSt. Joseph Krankenhaus, Zentrum Kinder- und Jugendmedizin, Wüsthoffstr. 15, 12101 Berlin, Germany.
Andreas WroblewskiSt. Joseph Krankenhaus, Zentrum Kinder- und Jugendmedizin, Wüsthoffstr. 15, 12101 Berlin, Germany.
Hans HartmannClinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany.
Anibh M DasClinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany.
Eva BültmannInstitute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, 30625 Hannover, Germany.
Fang FangDepartment of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045 Beijing, China.
Manting XuDepartment of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045 Beijing, China.
Ulrich A SchatzInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Daniela KarallClinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Herta ZellnerClinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Edda HaberlandtClinic for Pediatrics, Krankenhaus Stadt Dornbirn, 6850 Dornbirn, Austria.
René G FeichtingerDepartment of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
Johannes A MayrDepartment of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
Thomas MeitingerInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, German.
Holger ProkischInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045 Beijing, China.
Tim M StromInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Georg F HoffmannDivision of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
Maciej PronickiDepartment of Pathology, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Penelope E BonnenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Susanne MorlotInstitute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
Tobias B HaackInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076 Tübingen, Germany. Electronic address: tobias.haack@med.uni-tuebingen.de.
Technical University of Munich · DEHelmholtz Zentrum München · DEMedizinische Hochschule Hannover · DEChildren's Memorial Health Institute · PLMedical University of Warsaw · PLParacelsus Medical University · ATStanford University · USSt. Joseph-Krankenhaus · DEBaylor College of Medicine · USBeijing Children’s Hospital · CNCapital Medical University · CNHeidelberg University · DEInnsbruck Medical University · ATKrankenhaus Oberndorf · ATMunich Cluster for Systems Neurology · DEUniversität Innsbruck · ATUniversity Children's Hospital Tübingen · DEUniversity Hospital Heidelberg · DE
Funding
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1MNINDS NIH HHS R01 NS083726
Abstract
ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases transfer ADP-ribose from NAD
Indexed as
Adenosine Diphosphate RiboseAdolescentADP-RibosylationAllelesCerebellar AtaxiaChildChild, PreschoolDevelopmental DisabilitiesExomeFemaleGlycoside HydrolasesHumansInfantMaleMutationNervous System MalformationsAdenosine Diphosphate RiboseADPRS protein, humanGlycoside HydrolasesADPRHL2ARH3ataxiacerebellar atrophyneurodegenerationneuropathyPARPposttranslational modificationribosylationseizure
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