ArticleBrain communications2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
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Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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0cells of the map it votes in
16citing papers in PubMed
1.5field-weighted citation impact, top 19% of its field
What it found
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Who cites it
16 citing papers in PubMed, 19 citations in OpenAlex.
- Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.American journal of human genetics · 2026Article
- CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulators.JCI insight · 2026Article
- Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.Annals of clinical and translational neurology · 2026Article
- Splice effect of a synonymous variant inHuman mutation · 2026Article
- Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.Genome medicine · 2025Article
- Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.Protein science : a publication of the Protein Society · 2025Article
- Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.EMBO molecular medicine · 2024Article
- High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.Nature communications · 2024Article
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.Genes · 2023Article
- Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.The Journal of clinical investigation · 2023Article
- AP-4 loss in CRISPR-edited zebrafish affects early embryo development.Advances in biological regulation · 2023Article
- Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization.Brain communications · 2023Article
- Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.American journal of medical genetics. Part A · 2022Article
- Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Annals of clinical and translational neurology · 2022Article
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 7 countries.
Darius Ebrahimi-FakhariDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID https://orcid.org/0000-0002-0026-4714
Julian E AlecuDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Barbara BrechmannDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Marvin ZieglerDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Kathrin EberhardtDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Hellen JumoDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Angelica D'AmoreDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Parham HabibzadehPersian BayanGene Research and Training Center, Shiraz University of Medical Sciences, 71347 Shiraz, Iran.ORCID https://orcid.org/0000-0002-2086-0425
Mohammad Ali FaghihiDepartment of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136, USA.
Jan L De BleeckerDepartment of Neurology, Ghent University Hospital, 9000 Ghent, Belgium.
Sandrine Vuillaumier-BarrotDepartment of Biochemistry, AP-HP, Bichat Hospital, 75018 Paris, France.
Stéphane AuvinPediatric Neurology Department, AP-HP, Robert Debré Hospital, 75019 Paris, France.ORCID https://orcid.org/0000-0003-3874-9749
Filippo M SantorelliDepartment of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Sonja NeuserInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Bernt PoppInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID https://orcid.org/0000-0002-3679-1081
Edward YangDivision of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID https://orcid.org/0000-0002-9912-4163
Lee BarrettDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Alexandra K DaviesDepartment of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, 82152 Martinsried, Germany.ORCID https://orcid.org/0000-0002-1594-8780
Afshin SaffariDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Jennifer HirstCambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
Mustafa SahinDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID https://orcid.org/0000-0001-7044-2953
Boston Children's Hospital · USAssistance Publique – Hôpitaux de Paris · FRLeipzig University · DEFondazione Stella Maris · ITGhent University Hospital · BEMax Planck Institute of Biochemistry · DEShiraz University of Medical Sciences · IRUniversity of Cambridge · GBUniversity of Miami · US
Funding
Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI M. Pilar Trelles · 2014 to 2026
$20.1MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2MCH/BIDMC/Harvard Medical School Neurology Resident Research Education Program Competing RenewalR25NS070682 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI PODURI, ANNAPURNA, SAPER, CLIFFORD B · 2010 to 2023
$4.5MDevelopment of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic ParaplegiaK08NS123552 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI EBRAHIMI-FAKHARI, DARIUS · 2021 to 2025
$1.1MNICHD NIH HHS P50 HD105351NICHD NIH HHS U54 HD090255NINDS NIH HHS K08 NS123552NINDS NIH HHS R25 NS070682NINDS NIH HHS U54 NS092090Wellcome Trust
Abstract
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in
Indexed as
adaptor protein complex 4biomarkerfunctional assayhereditary spastic paraplegiahigh-throughput imaging
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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.