ArticleScience translational medicine2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Science translational medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01459302 (Family Studies in Neuromuscular Disorders), which is not on this map. Cited by 105 papers.
0numbers the graph read from it
0cells of the map it votes in
105citing papers in PubMed
19.3field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Family Studies in Neuromuscular Disorders
Who cites it
105 citing papers in PubMed, 244 citations in OpenAlex.
- Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.Acta neuropathologica · 2026Article
- Sorcin couples Annexin A11 recruitment to ESCRT-III assembly for plasma membrane repair.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Frontotemporal Lobar Degeneration-TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration.Neuropathology and applied neurobiology · 2026Article
- The ALS- and FTD-associated proteins annexin A11 and CHMP2B act sequentially in plasma membrane repair.Developmental cell · 2026Article
- Annexin A11 and TDP-43: core players in neurodegeneration.Acta neuropathologica · 2026Review
- Lysophagy protects against ANXA11 amyloid fibril toxicity and propagation in FTLD.Translational neurodegeneration · 2026Article
- ANXA11 suppression restores muscular function in the mdx mouse model of Duchenne muscular dystrophy (DMD).Nature communications · 2026Article
- Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases.Nature biotechnology · 2026Article
- Spatial Single-Cell Proteomics Reveals Molecular Trajectories Of Tangle-Bearing Neurons In Alzheimer's Disease.bioRxiv : the preprint server for biology · 2026Article
- Sorcin couples Annexin A11 recruitment and ESCRT-III assembly during plasma membrane repair.bioRxiv : the preprint server for biology · 2026Article
- Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders.Cell communication and signaling : CCS · 2026Review
- Co-aggregation of annexin A11 and TDP-43 in FTLD/MND with primary lateral sclerosis phenotype.Acta neuropathologica communications · 2026Article
- Dysregulated neuronal mRNA transport and translation in FTD/ALS.NPJ dementia · 2026Review
- ANXA11 Variant-Associated Adult-Onset Myopathy: A Novel Phenotype.Annals of Indian Academy of Neurology · 2026Article
- Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.Degenerative neurological and neuromuscular disease · 2026Article
- Dendritic location of dystrophic neurites in FTLD-TDP type C with annexinopathy.Brain pathology (Zurich, Switzerland) · 2026Article
- A new FTLD-TDP subtype with annexin A11 co-pathology.Acta neuropathologica · 2025Article
- Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.Acta neuropathologica · 2025Article
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
45 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
56 authors at 20 institutions in 9 countries.
Bradley N SmithUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-6980-2453
Simon D ToppUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-5200-3284
Claudia FalliniDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.ORCID 0000-0001-8329-3467
Hideki ShibataDepartment of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.ORCID 0000-0003-1509-6490
Han-Jou ChenUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0001-7875-8661
Claire TroakesUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-1790-7376
Andrew KingUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-7974-2589
Nicola TicozziDepartment of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.ORCID 0000-0001-5963-7426
Kevin P KennaDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Athina Soragia-GkaziUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.
Jack W MillerUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-3835-474X
Akane SatoDepartment of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.ORCID 0000-0003-1157-7414
Diana Marques DiasUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-6228-2600
Maryangel JeonDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Caroline VanceUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0001-5780-6951
Chun Hao WongUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0001-7614-8616
Martina de MajoUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0003-4524-6293
Wejdan KattuahUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.
Jacqueline C MitchellUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-2677-398X
Emma L ScotterCentre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Road, Grafton, Auckland, New Zealand.ORCID 0000-0003-4064-3599
Nicholas W ParkinMolecular Genetics Laboratory, Viapath, Genetics Centre, Guy's Hospital, Great Maze Pond, SE1 9RT London, UK.ORCID 0000-0002-1342-9397
Peter C SappDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Matthew NolanUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-7204-5385
Peter J NestorGerman Center for Neurodegenerative Diseases, Leipziger Str. 44, 39120 Magdeburg, Germany.
Michael SimpsonMedical & Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, Guy's Tower, London Bridge, SE1 9RT London, UK.
Michael WealeMedical & Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, Guy's Tower, London Bridge, SE1 9RT London, UK.
Monkel LekAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Frank BaasDepartment of Genome Analysis, University of Amsterdam, Academic Medical Centre, P.O. Box 22700, 1100DE Amsterdam, Netherlands.
J M Vianney de JongDepartment of Genome Analysis, University of Amsterdam, Academic Medical Centre, P.O. Box 22700, 1100DE Amsterdam, Netherlands.
Anneloor L M A Ten AsbroekDepartment of Genome Analysis, University of Amsterdam, Academic Medical Centre, P.O. Box 22700, 1100DE Amsterdam, Netherlands.ORCID 0000-0001-7190-0784
Alberto Garcia RedondoUnidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U-723 Madrid, Spain.ORCID 0000-0001-7646-386X
Jesús Esteban-PérezUnidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U-723 Madrid, Spain.
Cinzia TilocaDepartment of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.ORCID 0000-0001-8491-5758
Federico VerdeDepartment of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.
Stefano DugaDepartment of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.ORCID 0000-0003-3457-1410
Nigel LeighTrafford Centre for Medical Research, Brighton and Sussex Medical School, BN1 9RY Brighton, UK.ORCID 0000-0002-6702-0378
Hardev PallSchool of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Karen E MorrisonUniversity of Southampton, Southampton General Hospital, SO16 6YD, UK.
Ammar Al-ChalabiUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.
Pamela J ShawSheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.ORCID 0000-0003-0251-0146
Janine KirbySheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.ORCID 0000-0002-7468-5917
Martin R TurnerNuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0003-0267-3180
Kevin TalbotNuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0001-5490-1697
Orla HardimanAcademic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
Jonathan D GlassDepartment of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA.
Jacqueline De BellerocheNeurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, W12 0NN London, UK.ORCID 0000-0002-0689-9577
Masatoshi MakiDepartment of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.
Stephen E MossInstitute of Ophthalmology, University College London, 11-43 Bath Street, EC1V 9EL London, UK.ORCID 0000-0002-7304-8879
Christopher MillerUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.
Cinzia GelleraUnit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico "Carlo Besta," 20133 Milan, Italy.ORCID 0000-0002-3582-665X
Antonia RattiDepartment of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.
Safa Al-SarrajUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.ORCID 0000-0002-6783-3571
Robert H BrownDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Vincenzo SilaniDepartment of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.ORCID 0000-0002-7698-3854
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.ORCID 0000-0001-8084-5043
Christopher E ShawUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK. chris.shaw@kcl.ac.uk.
King's College London · GBUniversity of Massachusetts Chan Medical School · USUniversity of Milan · ITAmsterdam UMC Location University of Amsterdam · NLNagoya University · JPCentro de Investigación Biomédica en Red · ESJohn Radcliffe Hospital · GBUniversity of Sheffield · GBBrighton and Sussex Medical School · GBBroad Institute · USEmory University · USFondazione IRCCS Istituto Neurologico Carlo Besta · ITGerman Center for Neurodegenerative Diseases · DEGuy's Hospital · GBHammersmith Hospital · GBHumanitas University · ITSouthampton General Hospital · GBTrinity College Dublin · IEUniversity College London · GBUniversity of Auckland · NZ
Funding
Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6MHoward Hughes Medical InstituteMedical Research Council G0300329Medical Research Council G0500289Medical Research Council G0501573Medical Research Council G0600974Medical Research Council G0900635Medical Research Council G0900688Medical Research Council G1100695Medical Research Council MC_G1000733Medical Research Council MC_PC_17115Medical Research Council MR/K01014X/1Medical Research Council MR/L016397/1Medical Research Council MR/L021803/1Medical Research Council MR/L501529/1Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association SHAW/APR15/933-794Motor Neurone Disease Association SHAW/NOV14/985-797Motor Neurone Disease Association SMITH/APR16/847-791Motor Neurone Disease Association TURNER/JAN13/944-795MRF_ MRF-060-0003-RG-SMITHNINDS NIH HHS R01 NS073873Wellcome Trust
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the
Indexed as
Amyotrophic Lateral SclerosisAnnexinsHuman Embryonic Stem CellsHumansMutationProtein BindingProtein TransportS100 Calcium Binding Protein A6AnnexinsS100 Calcium Binding Protein A6
Identifiers
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Registered trials
NCT01459302ClinicalTrials.gov
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.