ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2019
PTCD1 Is Required for Mitochondrial Oxidative-Phosphorylation: Possible Genetic Association with Alzheimer's Disease.
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Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
1.4field-weighted citation impact, top 19% of its field
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18 citing papers in PubMed, 31 citations in OpenAlex.
- Next-generation neurotherapeutics: nanotechnology, immunotherapy, and gene editing for neurodegenerative diseases.Neurodegenerative disease management · 2025Review
- Analysis of mRNA Pentatricopeptide Repeat Domain 1 as a prospective oncogene in clear cell renal cell carcinoma that accelerates tumor cells proliferation and invasion via the Akt/GSK3β/β-catenin pathway.Discover oncology · 2025Article
- Inhibiting mtDNA transcript translation alters Alzheimer's disease-associated biology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Mitochondria Dysfunction and Neuroinflammation in Neurodegeneration: Who Comes First?Antioxidants (Basel, Switzerland) · 2024Review
- Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy production.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling.International journal of molecular sciences · 2023Article
- Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy production.bioRxiv : the preprint server for biology · 2023Article
- Lipid nanoparticle delivery limits antisense oligonucleotide activity and cellular distribution in the brain after intracerebroventricular injection.Molecular therapy. Nucleic acids · 2023Article
- The effects and potential of microglial polarization and crosstalk with other cells of the central nervous system in the treatment of Alzheimer's disease.Neural regeneration research · 2023Review
- Downregulation of PTCD1 in Bladder Urothelial Carcinoma Predicts Poor Prognosis and Levels of Immune Infiltration.Journal of oncology · 2022Article
- A Mitochondrial DNA Haplogroup Defines Patterns of Five-Year Cognitive Change.Journal of Alzheimer's disease : JAD · 2022Article
- The heterogeneity among subgroups of haplogroup J influencing Alzheimer's disease risk.Journal of advanced research · 2021Article
- Glucose metabolic crosstalk and regulation in brain function and diseases.Progress in neurobiology · 2021Review
- Mitochondrial Dysfunction in Alzheimer's Disease: A Biomarker of the Future?Biomedicines · 2021Review
- Exploratory analysis of mtDNA haplogroups in two Alzheimer's longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- The mitochondrial hypothesis: Dysfunction, bioenergetic defects, and the metabolic link to Alzheimer's disease.International review of neurobiology · 2020Review
- Mitochondria and Alzheimer's: Is PTCD1 the Smoking Gun?Trends in neurosciences · 2019Article
- Developing a Suite of Online Learning Modules on the Components of Next-Generation Sequencing Projects.Medical reference services quarterlyArticle
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Authors and funding
12 authors at 3 institutions in 3 countries.
Daniel FleckDepartments of Neuroscience.
Lilian PhuMicrochemistry, Proteomics, and Lipidomics.
Erik VerschuerenMicrochemistry, Proteomics, and Lipidomics.
Trent HinkleMicrochemistry, Proteomics, and Lipidomics.
Mike ReicheltPathology.
Tushar BhangaleHuman Genetics, and.
Benjamin HaleyMolecular Biology, Genentech Inc., South San Francisco, California 94080.
Yuanyuan WangDepartments of Neuroscience.
Robert GrahamHuman Genetics, and.
Donald S KirkpatrickMicrochemistry, Proteomics, and Lipidomics.
Morgan ShengDepartments of Neuroscience, bingol.baris@gene.com sheng.morgan@gene.com.ORCID 0000-0002-8703-5366
Baris BingolDepartments of Neuroscience, bingol.baris@gene.com sheng.morgan@gene.com.
Microsemi (Canada) · CAGene Therapy Laboratory · FRInstitute of Human Genetics · PL
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MARIC Neurocognitive Study (ARIC-NCS) Renewal 2023-2028U01HL096812 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI JOSEF CORESH, THOMAS H MOSLEY · 2010 to 2026
$65.7MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTHE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3MWhole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS)U01AG057659 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MAYEUX, RICHARD P, PERICAK-VANCE, MARGARET A. · 2017 to 2021
$34.4MGenome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI NAJ, ADAM CHRISTIAN · 2016 to 2025
$32.8MBuilding on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6MPRECURSORS OF STROKE INCIDENCE AND PROGNOSISR01NS017950 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Hugo Javier Aparicio, Jose Rafael Romero · 1985 to 2026
$22.9MAustrian Science Fund FWF I 904NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS R01 HL070825NHLBI NIH HHS R01 HL105756NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL096812NHLBI NIH HHS U01 HL096814NHLBI NIH HHS U01 HL096899NHLBI NIH HHS U01 HL096902NHLBI NIH HHS U01 HL096917NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG033040NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG049607NIA NIH HHS R01 AG054076NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG049505NIA NIH HHS U01 AG049506NIA NIH HHS U01 AG049507NIA NIH HHS U01 AG049508NIA NIH HHS U01 AG052409NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG052411NIA NIH HHS U01 AG057659NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIA NIH HHS U54 AG052427NIA NIH HHS UF1 AG047133NINDS NIH HHS R01 NS017950
Abstract
In addition to amyloid-β plaques and tau tangles, mitochondrial dysfunction is implicated in the pathology of Alzheimer's disease (AD). Neurons heavily rely on mitochondrial function, and deficits in brain energy metabolism are detected early in AD; however, direct human genetic evidence for mitochondrial involvement in AD pathogenesis is limited. We analyzed whole-exome sequencing data of 4549 AD cases and 3332 age-matched controls and discovered that rare protein altering variants in the gene pentatricopeptide repeat-containing protein 1 (
Indexed as
Oxidative PhosphorylationAdenosine TriphosphateAlzheimer DiseaseElectron Transport Chain Complex ProteinsEnergy MetabolismGene Knockout TechniquesGenetic VariationGlycolysisHeLa CellsHumansMitochondriaMitochondrial ProteinsOxidative StressRibosomesStress, PhysiologicalAdenosine TriphosphateElectron Transport Chain Complex ProteinsMitochondrial ProteinsPTCD1 protein, humanAlzheimer's diseaseenergy generationmitochondriaoxidative phosphorylationPTCD1
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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.