ArticleNature communications2022
Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
Erratum issuedOpen access · goldAbstract read
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Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 papers.
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35citing papers in PubMed
3.8field-weighted citation impact, top 5% of its field
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35 citing papers in PubMed, 48 citations in OpenAlex.
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- Genome-wide analysis of subcortical aging identifies a spatially structured pattern of genetic associations.GeroScience · 2026Article
- Multi-ancestry multi-trait analysis reveals shared genetics across major psychiatric disorders and Alzheimer's disease.Translational psychiatry · 2026Article
- Lysine acetyltransferase 8-mediated histone acetylation, regulated by GBA1, is associated with lysosomal function related to α-Synuclein pathology.Cell death & disease · 2026Article
- PARKIN overexpression confers cardioprotection via suppressing the mtDNA-cGAS-STING axis in myocardial ischemia/reperfusion injury.Basic research in cardiology · 2026Article
- Targeting age-related LINE-1 activation alleviates cardiac aging.Nature aging · 2026Article
- Emerging roles of circular RNAs and enhancer RNAs: new insights into the development and management of neurodegenerative disorders.Biomarker research · 2026Review
- Shared genetic architecture between Parkinson's disease and self-reported sleep-related traits implicates theSleep advances : a journal of the Sleep Research Society · 2026Article
- Neuroimaging-derived brain endophenotypes link molecular mechanisms to Alzheimer's disease and aging.medRxiv : the preprint server for health sciences · 2025Article
- Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain.Nucleic acids research · 2025Article
- Article
- Spatio-temporal processes in autophagosome-lysosome fusion.Medical review (2021) · 2025Review
- Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component.Acta neuropathologica · 2025Review
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.Scientific reports · 2024Article
- Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Transcriptomic analysis reveals associations of blood-based A-to-I editing with Parkinson's disease.Journal of neurology · 2024Article
- Review
- Acetyltransferase in cardiovascular disease and aging.The journal of cardiovascular aging · 2024Article
- The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.Brain : a journal of neurology · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 5 institutions in 1 country.
Ting Li *State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Dingyi Lu *State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Chengcheng Yao *State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Tingting LiState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Hua DongState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Zhan LiNanhu Laboratory, Jiaxing, Zhejiang Province, China.
Guang XuState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Jiayi ChenState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Hao ZhangState Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.
Xiaoyu YiState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Haizhen ZhuState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Guangqin LiuState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Kaiqing WenState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Haixin ZhaoState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Jun GaoState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Yakun ZhangState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Qiuying HanState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Teng LiState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Weina ZhangState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Jie ZhaoState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Tao LiState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.ORCID http://orcid.org/0000-0002-0746-8322
Zhaofang BaiMilitary Institute of Chinese Materia, the Fifth Medical Centre of Chinese PLA General Hospital, Beijing, China.
Moshi SongState Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.
Xinhua HeNanhu Laboratory, Jiaxing, Zhejiang Province, China.ORCID http://orcid.org/0000-0001-7826-2973
Tao ZhouState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.ORCID http://orcid.org/0000-0001-6222-2053
Qing XiaState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China. qxia@ncba.ac.cn.
Ailing LiState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China. all@ncba.ac.cn.
Xin PanState Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China. xpan@ncba.ac.cn.ORCID http://orcid.org/0000-0002-1982-2261
National Center of Biomedical Analysis · CNChinese PLA General Hospital · CNShanghai Medical College of Fudan University · CNChinese Academy of Sciences · CNJiaxing University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Koolen-de Vries syndrome (KdVS) is a rare disorder caused by haploinsufficiency of KAT8 regulatory NSL complex subunit 1 (KANSL1), which is characterized by intellectual disability, heart failure, hypotonia, and congenital malformations. To date, no effective treatment has been found for KdVS, largely due to its unknown pathogenesis. Using siRNA screening, we identified KANSL1 as an essential gene for autophagy. Mechanistic study shows that KANSL1 modulates autophagosome-lysosome fusion for cargo degradation via transcriptional regulation of autophagosomal gene, STX17. Kansl1
Indexed as
Abnormalities, MultipleAnimalsAutophagosomesCerebral CortexChromosome DeletionChromosomes, Human, Pair 17Disease Models, AnimalFemaleHaploinsufficiencyHeLa CellsHumansIntellectual DisabilityIsotretinoinLysosomesMiceMice, TransgenicIsotretinoinKANSL1 protein, mouseNSL1 protein, humanNuclear Proteins
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