ArticleScience translational medicine2021
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
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Article in Science translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
What it found
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Who cites it
25 citing papers in PubMed, 29 citations in OpenAlex.
- Structure of NHE6 and its lipid-mediated interactions regulating endosomal pH.Nature communications · 2026Article
- Integrative structural analysis of human endosomal NHE6 reveals a lipid-associated gate and disordered C-terminus.Nature communications · 2026Article
- Characterization of Electrophysiological and Transcriptomic Alterations in Patient-Derived Neurons from CHAMP1 Syndrome.bioRxiv : the preprint server for biology · 2026Article
- Endosome maturation is orchestrated by inside-out proton signaling through a NaNature communications · 2026Article
- Viral vector-mediated SLC9A6 gene replacement reduces cerebellar motor and molecular abnormalities in the shaker rat model of Christianson syndrome.Human molecular genetics · 2026Article
- Endosome maturation is orchestrated by inside-out proton signaling through a NaResearch square · 2026Article
- Article
- Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.Journal of medical genetics · 2024Article
- GGA1 interacts with the endosomal Na+/H+ exchanger NHE6 governing localization to the endosome compartment.The Journal of biological chemistry · 2024Article
- Early IGF-1 receptor inhibition in mice mimics preterm human brain disorders and reveals a therapeutic target.Science advances · 2024Article
- Neuroimmune mechanisms in autism etiology - untangling a complex problem using human cellular models.Oxford open neuroscience · 2024Article
- BDNF and Cerebellar Ataxia.Current drug research reviews · 2024Review
- Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.Biology open · 2023Article
- The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.Neurobiology of disease · 2023Article
- Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder.Human molecular genetics · 2023Article
- Clinical and genetic analysis of Christianson syndrome caused by variant ofFrontiers in neurology · 2023Article
- Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.Brain : a journal of neurology · 2022Article
- Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.Stem cell reports · 2022Article
- Cortical Organoids to Model Microcephaly.Cells · 2022Review
- Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders.Frontiers in physiology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 4 institutions in 1 country.
Sofia B LizarragaDepartment of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.ORCID 0000-0001-5153-1993
Li MaDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.ORCID 0000-0002-9565-1230
Abbie M MaguireDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Laura I van DyckDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Qing WuDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Qing OuyangDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Brian C KavanaughCenter for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.ORCID 0000-0002-4785-4439
Dipal NagdaDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Liane L LiviDepartment of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI 02912, USA.
Matthew F PescosolidoDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.ORCID 0000-0002-5994-0123
Michael SchmidtDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.ORCID 0000-0002-7990-033X
Shanique AlabiDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mara H CowenDepartment of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.ORCID 0000-0003-0520-8401
Paul Brito-VargasDepartment of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.
Diane Hoffman-KimDepartment of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI 02912, USA.ORCID 0000-0003-0047-1980
Ece D Gamsiz UzunCenter for Computational Molecular Biology, Brown University, Providence, RI 02912, USA.
Avner SchlessingerDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0003-4007-7814
Richard N JonesQuantitative Sciences Program, Department of Psychiatry and Human Behavior and Department of Neurology, Warren Alpert Medical School of Brown University, Providence, RI 02912, USA.ORCID 0000-0002-1049-218X
Eric M MorrowDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA. eric_morrow@brown.edu.ORCID 0000-0003-3430-3520
Allen Institute for Brain Science · USBrown University · USUniversity of South Carolina · USIcahn School of Medicine at Mount Sinai · US
Funding
South Carolina IDeA Networks of Biomedical Research (SC INBRE V)P20GM103499 · NIGMS · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI EDIE C GOLDSMITH · 2012 to 2026
$61.0MTargeting early ceramide elevation in pre-symptomatic eczemaP20GM103641 · NIGMS · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI ENOS, REILLY, NAGARKATTI, PRAKASH S · 2012 to 2023
$20.7MPost-Baccalaureate Research Education Program (PREP)R25GM064118 · NIGMS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI SLY, JAMILIA RAKI, SLY, JAMILIA RAKI · 2001 to 2024
$7.2MPathogenic Mechanisms in Christianson Syndrome and NHE6-Related DisordersR01NS113141 · NINDS · BROWN UNIVERSITY · PI Eric M Morrow · 2019 to 2026
$7.0MSubstrate Specificity Determinants in Nutrient Solute Carrier TransportersR01GM108911 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SCHLESSINGER, AVNER · 2014 to 2022
$3.1MMechanisms of circuit failure and treatments in patient-derived neurons in autismR01MH105442 · NIMH · BROWN UNIVERSITY · PI MORROW, ERIC M · 2014 to 2019
$2.8MAutism-linked endosomal mechanisms in neuronal arborization and connectivityR01MH102418 · NIMH · BROWN UNIVERSITY · PI MORROW, ERIC M · 2015 to 2018
$1.6MNIA Short Term Research Training: Students in Health Professional SchoolsT35AG049685 · NIA · YALE UNIVERSITY · PI Sarwat I Chaudhry, Terri R. Fried · 2016 to 2026
$804kConvergent Cellular Mechanisms Governed by UBE3A and NHEs in NeuronsR21MH115392 · NIMH · BROWN UNIVERSITY · PI MORROW, ERIC M · 2017 to 2018
$447kNIA NIH HHS T35 AG049685NIGMS NIH HHS P20 GM103499NIGMS NIH HHS P20 GM103641NIGMS NIH HHS R01 GM108911NIGMS NIH HHS R25 GM064118NIMH NIH HHS R01 MH102418NIMH NIH HHS R01 MH105442NIMH NIH HHS R21 MH115392NINDS NIH HHS R01 NS113141
Abstract
Christianson syndrome (CS), an X-linked neurological disorder characterized by postnatal attenuation of brain growth (postnatal microcephaly), is caused by mutations in
Indexed as
Induced Pluripotent Stem CellsMicrocephalyAtaxiaEpilepsyGenetic Diseases, X-LinkedHumansIntellectual DisabilityMutationNeuronsOcular Motility Disorders
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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.