ArticleNature genetics2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
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Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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80citing papers in PubMed
9.8field-weighted citation impact, top 1% of its field
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Who cites it
80 citing papers in PubMed, 134 citations in OpenAlex.
- Epigenome-wide DNA methylation and spontaneous preterm birth among pregnant black women.Clinical epigenetics · 2026Article
- A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20.Genes · 2026Article
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- Sphingolipid and methionine metabolism in aging.Journal of cell science · 2025Review
- Inhibiting SNX14 Alleviates Epileptic Seizures by Regulating GluA2 Degradation via the Lysosomal Pathway.Molecular neurobiology · 2025Article
- Neuronal autophagy controls excitability via ryanodine receptor-mediated regulation of calcium-activated potassium channel function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Retinoic Acid Promotes Neuronal Differentiation While Increasing Proteins and Organelles Related to Autophagy.International journal of molecular sciences · 2025Article
- Multiomics approach identifies dysregulated lipidomic and proteomic networks in Parkinson's disease patients mutated in TMEM175.NPJ Parkinson's disease · 2025Article
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- SNX14 inhibits autophagy via the PI3K/AKT/mTOR signaling cascade in breast cancer cells.Journal of molecular histology · 2024Article
- Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency.JCI insight · 2024Article
- Review
- Epigenetic regulation ofAutophagy · 2024Review
- Lysosomal membrane contact sites: Integrative hubs for cellular communication and homeostasis.Current topics in membranes · 2024Review
- Compound heterozygous mutation of theFrontiers in genetics · 2024Article
- Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6.eLife · 2023Article
- Interaction of the sorting nexin 25 homologue Snazarus with Rab11 balances endocytic and secretory transport and maintains the ultrafiltration diaphragm in nephrocytes.Molecular biology of the cell · 2023Article
- Endoplasmic Reticulum Membrane Contact Sites, Lipid Transport, and Neurodegeneration.Cold Spring Harbor perspectives in biology · 2023Review
- Phosphoinositides as membrane organizers.Nature reviews. Molecular cell biology · 2022Review
20 more citing papers are in PubMed but not listed here.
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Authors and funding
44 authors at 20 institutions in 8 countries.
Naiara Akizu1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [3] Dorris Neuroscience Center, Scripps Research Institute, La Jolla, California, USA.
Vincent CantagrelInstitut Imagine, INSERM U1163, Hôpital Necker Enfants Malades, Paris, France.
Maha S ZakiHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Lihadh Al-GazaliDepartment of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, United Arab Emirates.
Xin Wang1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Rasim Ozgur Rosti1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Esra Dikoglu1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Antoinette Bernabe Gelot1] Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Département de Génétique, UF Génétique du Développement, Neuropathologie, Paris, France. [2] Institut de Neurobiologie de la Méditerranée (INMED) INSERM U901, Marseille, France.
Basak Rosti1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Keith K Vaux1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Eric M Scott1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Jennifer L Silhavy1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Jana Schroth1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Brett Copeland1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Ashleigh E Schaffer1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Philip L S M GordtsDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California, USA.
Jeffrey D EskoDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California, USA.
Matthew D BuschmanDivision of Endocrinology and Metabolism, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Seth J FieldDivision of Endocrinology and Metabolism, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Gennaro NapolitanoDepartment of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA.
Ghada M Abdel-SalamHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
R Koksal OzgulPediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara, Turkey.
Mahmut Samil SagırogluTübitak Bilgem Uekae, Gebze/Kocaeli, Turkey.
Matloob AzamWah Medical College, Wah, Pakistan.
Samira IsmailHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Mona AglanHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Laila SelimDepartment of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.
Iman G MahmoudDepartment of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.
Sawsan Abdel-HadiDepartment of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.
Amera El BadawyDepartment of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.
Abdelrahim A SadekPediatric Neurology Department, Faculty of Medicine, Sohag University, Sohag, Egypt.
Faezeh MojahediMashhad Medical Genetic Counseling Center, Mashhad, Iran.
Hulya KayseriliMedical Genetics Department, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
Amira MasriDivision of Child Neurology, Department of Pediatrics, University of Jordan, Amman, Jordan.
Laila BastakiKuwait Medical Genetics Centre, Maternity Hospital, Safat, Kuwait.
Samia TemtamyHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Ulrich MüllerDorris Neuroscience Center, Scripps Research Institute, La Jolla, California, USA.
Isabelle DesguerreDepartment of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
Jean-Laurent Casanova1] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [2] Génétique Humaine des Maladies Infectieuses, INSERM U1163, Université Paris Descartes, Institut Imagine, Paris, France. [3] St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.
Ali DursunPediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Murat Gunel1] Department of Neurosurgery, Yale University, School of Medicine, New Haven, Connecticut, USA. [2] Department of Neurobiology, Yale University, School of Medicine, New Haven, Connecticut, USA. [3] Department of Genetics, Yale University, School of Medicine, New Haven, Connecticut, USA.
Stacey B GabrielBroad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Pascale de LonlayReference Center of Inherited Metabolic Diseases, Paris Descartes University, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Joseph G Gleeson1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [3] New York Genome Center, New York, New York, USA.
Rockefeller University · USNational Research Centre · EGCairo University · EGUniversity of California, San Diego · USHôpital Necker-Enfants Malades · FRHoward Hughes Medical Institute · USHacettepe University · TRScripps Research Institute · USBroad Institute · USInserm · FRIstanbul University · TRKuwait Institute for Medical Specialization · KWNew York Genome Center · USSohag University · EGSorbonne Université · FRTUBITAK BILGEM · TRUnited Arab Emirates University · AEUniversity of Jordan · JOUniversity of Wah · PKYale University · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MProject 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MJouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0MExploring the role of AMP DEAMINASES in neuronal development and degeneration.K99NS089859 · NINDS · SCRIPPS RESEARCH INSTITUTE, THE · PI AKIZU, NAIARA · 2014 to 2015
$178kHoward Hughes Medical InstituteNHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54HG006504NICHD NIH HHS P01 HD070494NICHD NIH HHS P01HD070494NINDS NIH HHS K99 NS089859NINDS NIH HHS K99NS089859-01NINDS NIH HHS R01 NS048453NINDS NIH HHS R01NS048453NINDS NIH HHS R01 NS052455
Abstract
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes. Patient-derived cells showed engorged lysosomes and a slower autophagosome clearance rate upon autophagy induction by starvation. Zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.
Indexed as
AnimalsAtrophyAutophagyCerebellar DiseasesCerebellumChild, PreschoolFemaleGene FrequencyHumansInfantLod ScoreLysosomal Storage DiseasesLysosomesMaleMutationPhagosomesSNX14 protein, humanSorting Nexins
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