ArticleNature communications2015
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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57citing papers in PubMed, 1 pooled it
7.9field-weighted citation impact, top 2% of its field
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.Brain : a journal of neurology · 2024Pooled it
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.Molecular medicine reports · 2018Trial
- Splenial corpus callosum lesions in Boucher-Neuhäuser syndrome: a case series and comprehensive literature review with exploratory analysis of disease duration.Neuroradiology · 2026Article
- Scaling covalent ligand discovery through dynamic combinatorial library-versus-proteome screening.Nature communications · 2026Article
- Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- The cyclic nucleotide binding sites of Swiss-Cheese, thebioRxiv : the preprint server for biology · 2025Article
- Article
- A direct solubilization approach to purify active full-length human neuropathy target esterase.Protein expression and purification · 2025Article
- The balancing act between lipid droplets and lysosomes for membrane functionality in age-related neurodegeneration and inflammation.Progress in lipid research · 2025Review
- PNPLA6 regulates retinal homeostasis by choline through phospholipid turnover.Nature communications · 2025Article
- The Connection Between Cellular Metabolism and Retinal Disease.Advances in experimental medicine and biology · 2025Review
- Novel variant inFrontiers in genetics · 2025Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Review
- The potential DNA methylation markers of cardiovascular disease in patients with type 2 diabetes.BMC medical genomics · 2023Article
- Three-dimensional genome structure and function.MedComm · 2023Review
- Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.Cold Spring Harbor perspectives in medicine · 2023Article
- Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration.Journal of lipid research · 2023Article
- Review
Corrections and comments
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Authors and funding
37 authors at 14 institutions in 7 countries.
S KmochFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
J MajewskiFaculty of Medicine, Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada H3A 0G1.
V RamamurthyCellular Neurobiology Research Unit, Institut de recherches cliniques de Montréal (IRCM), 110, Ave des Pins Ouest, Montreal, Quebec, Canada H2W 1R7.
S Cao1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
S FahiminiyaFaculty of Medicine, Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada H3A 0G1.
H Ren1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
I M MacDonaldDepartment of Ophthalmology and Visual Sciences, University of Alberta/Royal Alexandra Hospital, 10240 Kingsway Avenue, Edmonton, Alberta, Canada AB T5H 3V9.
I Lopez1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
V Sun1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
V Keser1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
A Khan1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
V StráneckýFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
H HartmannováFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
A PřistoupilováFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
K HodaňováFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
L PiherováFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
L KuchařFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, 120 00 Prague 2, Czech Republic.
A BaxováFirst Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University in Prague, 120 00 Prague 2, Czech Republic.
R ChenHuman Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
O G P BarsottiniDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.
A PyleInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
H GriffinInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
M SplittInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
J SallumDepartment of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.
J L TolmieDepartment of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK.
J R SampsonInstitute of Medical Genetics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK.
P ChinneryInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Care4Rare Canada
E BaninDepartment of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
D SharonDepartment of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
S DuttaOregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, Oregon 97239, USA.
R GreblerLehrstuhl fuer Neurobiology und Genetik, Universitaet Wuerzburg, 97074 Wuerzburg, Germany.
C Helfrich-FoersterLehrstuhl fuer Neurobiology und Genetik, Universitaet Wuerzburg, 97074 Wuerzburg, Germany.
J L PedrosoDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo 04021-001, Brazil.
D KretzschmarOregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, Oregon 97239, USA.
M Cayouette1] Cellular Neurobiology Research Unit, Institut de recherches cliniques de Montréal (IRCM), 110, Ave des Pins Ouest, Montreal, Quebec, Canada H2W 1R7 [2] Departement de Médecine, Université de Montréal, Montreal, Quebec, Canada H3T 1P1 [3] Division of Experimental Medicine, Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada H3A 2B2.
R K Koenekoop1] McGill University, 845 Sherbrooke Street West, Montreal, Quebec, Canada H3A 0G4 [2] McGill Ocular Genetics Laboratory; Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.
Charles University · CZMontreal Children's Hospital · CAUniversity of Ottawa · CANewcastle University · GBOregon Health & Science University · USMcGill University and Génome Québec Innovation Centre · CAUniversidade Federal de São Paulo · BRUniversity of Würzburg · DEBaylor College of Medicine · USCardiff University · GBHadassah Medical Center · ILMontreal Clinical Research Institute · CASouthern General Hospital · GBUniversity of Alberta · CA
Funding
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2MMolecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1MSWS/NTE function in neurodegeneration and axonopathyR01NS047663 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI KRETZSCHMAR, DORIS · 2004 to 2013
$2.7MCIHRMedical Research Council MR/K000608/1NEI NIH HHS EY018571-05NEI NIH HHS EY022356-01NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NINDS NIH HHS NS047663-09NINDS NIH HHS R01 NS047663Wellcome Trust 101876
Abstract
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that induce human paralysis due to severe axonopathy of large neurons. Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degeneration. Here we identify PNPLA6 mutations in childhood blindness in seven families with retinal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome. PNPLA6 localizes mostly at the inner segment plasma membrane in photoreceptors and mutations in Drosophila PNPLA6 lead to photoreceptor cell death. We also report that lysophosphatidylcholine and lysophosphatidic acid levels are elevated in mutant Drosophila. These findings show a role for PNPLA6 in photoreceptor survival and identify phospholipid metabolism as a potential therapeutic target for some forms of blindness.
Indexed as
MutationAcyltransferasesAmino Acid SequenceAnimalsBlindnessChildChild, PreschoolDrosophilaFemaleHumansMaleMiceMice, Inbred C57BLMicroscopy, FluorescenceMolecular Sequence DataPedigreeAcyltransferasesPhospholipasesPhospholipidsPNPLA6 protein, human
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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.