ArticleNature communications2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
3.7field-weighted citation impact, top 6% of its field
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Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
- Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration.Clinical case reports · 2026Article
- Endoplasmic reticulum (ER) protein degradation by ER-associated degradation and ER-phagy.Trends in cell biology · 2025Review
- Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.CNS neuroscience & therapeutics · 2025Review
- Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Human genetics · 2024Article
- ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.Life science alliance · 2024Article
- Article
- Diving deep: zebrafish models in motor neuron degeneration research.Frontiers in neuroscience · 2024Review
- Article
- Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models.Human mutation · 2023Article
- Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome medicine · 2022Article
- A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.Neurogenetics · 2022Review
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- TREX1 Deficiency Induces ER Stress-Mediated Neuronal Cell Death by Disrupting CaMolecular neurobiology · 2022Article
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases?Antioxidants (Basel, Switzerland) · 2022Review
- RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.European journal of neurology · 2022Article
- More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.Brain and behavior · 2021Review
- Clinico-genetic findings in 509 frontotemporal dementia patients.Molecular psychiatry · 2021Article
- Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias.iScience · 2021Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
Corrections and comments
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Authors and funding
29 authors at 12 institutions in 5 countries.
Matias WagnerInstitute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, Munich, Germany.ORCID http://orcid.org/0000-0002-4454-8823
Daniel P S OsbornGenetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.ORCID http://orcid.org/0000-0002-5266-404X
Ina GehweilerDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Maike NagelDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Ulrike UlmerDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Somayeh BakhtiariBarrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, 85016, USA.
Rim AmouriNeurology Department, Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia.
Reza BoostaniDepartment of Neurology, Mashhad, Iran.
Faycal HentatiNeurology Department, Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia.
Maryam M HockleyDepartments of Child Health, Cellular & Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine, Phoenix, AZ, 85004, USA.
Benedikt HölblingDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Thomas SchwarzmayrInstitut für Neurogenomik, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.
Ehsan Ghayoor KarimianiGenetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
Christoph KernstockCentre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Reza MaroofianGenetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
Wolfgang Müller-FelberDepartment of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich, Lindwurmstraße 4, 80337, Munich, Germany.
Ege OzkanGenetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.ORCID http://orcid.org/0000-0001-5477-0965
Sergio Padilla-LopezBarrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, 85016, USA.
Selina ReichDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Jennifer ReichbauerDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Hossein DarvishCancer Research Center, Semnan University of Medical Sciences, Semnan, Iran.
Neda ShahmohammadibeniCancer Research Center, Semnan University of Medical Sciences, Semnan, Iran.
Abbas TafakhoriIranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Katharina VillDepartment of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich, Lindwurmstraße 4, 80337, Munich, Germany.
Stephan ZuchnerDr. John T. Macdonald Foundation, Department of Human Genetics, FL33136, Miami, USA.
Michael C KruerBarrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, 85016, USA.
Juliane WinkelmannInstitute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, Munich, Germany.
Yalda JamshidiGenetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.ORCID http://orcid.org/0000-0003-0151-6482
Rebecca SchüleDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany. rebecca.schuele-freyer@uni-tuebingen.de.
German Center for Neurodegenerative Diseases · DESt George's, University of London · GBBarrow Neurological Institute · USHelmholtz Zentrum München · DELudwig-Maximilians-Universität München · DESemnan University of Medical Sciences · IRTunis University · TNMashhad University of Medical Sciences · IRSTZ eyetrial · DETehran University of Medical Sciences · IRUniversity of Arizona · USUniversity of Miami · US
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MGENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2MGenomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7MGenomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0MMolecular And Genetic Analysis Of Autosomal Dominant Spastic ParaplegiaR01NS054132 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ZUCHNER, STEPHAN · 2008 to 2011
$1.3MMolecular mechanisms of mitochondrial dysfunction in ATP13A2-associated neurodegeK08NS083739 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2013 to 2017
$869kNINDS NIH HHS K08 NS083739NINDS NIH HHS R01 NS054132NINDS NIH HHS R01 NS072248NINDS NIH HHS R01 NS075764NINDS NIH HHS R01 NS106298NINDS NIH HHS U54 NS065712
Abstract
Alterations of Ca
Indexed as
AdolescentAdultAnimalsCalciumCell Line, TumorChildChild, PreschoolEndoplasmic ReticulumEndoplasmic Reticulum-Associated DegradationFemaleFibroblastsGene Knockdown TechniquesHigh-Throughput Nucleotide SequencingHumansInositol 1,4,5-TrisphosphateInositol 1,4,5-Trisphosphate ReceptorsCalciumInositol 1,4,5-TrisphosphateInositol 1,4,5-Trisphosphate ReceptorsRNF170 protein, humanUbiquitin-Protein Ligases
Identifiers
What OpenQuestion holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.