Motile cilia provide propulsion, and immotile ones are enriched with receptors. Both are required to establish left-right identity in the developing embryo and are also implicated in a wide range of human diseases. Abnormalities in cilial function underlie heterotaxy congenital heart disease (CHD) occurring in individuals with laterality disturbance. Mitochondrial function and cellular energetics, through mTOR and autophagy, are now linked with cilial function, revealing new mechanisms and candidate genes for syndromic human disease. In the current issue of the JCI, Burkhalter et al. ask the question: Can mitochondrial disturbances produce ciliopathy and does this explain some cases of heterotaxy?
Bill Chaudhry, Deborah J. Henderson
Title and authors | Publication | Year |
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Enhanced primary ciliogenesis via mitochondrial oxidative stress activates AKT to prevent neurotoxicity in HSPA9/mortalin-depleted SH-SY5Y cells
Bae JE, Jang S, Kim JB, Hyung H, Park NY, Kim YH, Kim SH, Kim SH, Ha JM, Oh GS, Park K, Jeong K, Jang JS, Jo DS, Kim P, Lee HS, Ryoo ZY, Cho DH |
Molecular brain | 2023 |
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Seidel F, Laser KT, Klingel K, Dartsch J, Theisen S, Pickardt T, Holtgrewe M, Gärtner A, Berger F, Beule D, Milting H, Schubert S, Klaassen S, Kühnisch J |
Journal of Cardiovascular Development and Disease | 2022 |
CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2
Key J, Gispert S, Koornneef L, Sleddens-Linkels E, Kohli A, Torres-Odio S, Koepf G, Amr S, Reichlmeir M, Harter PN, West AP, Münch C, Baarends WM, Auburger G |
Cells | 2022 |
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Y Zhao, L Wang, A Eskin, X Kang, VM Fajardo, Z Mehta, S Pineles, RJ Schmidt, A Nagiel, G Satou, M Garg, M Federman, LC Reardon, SL Lee, R Biniwale, WW Grody, N Halnon, N Khanlou, F Quintero-Rivera, JC Alejos, A Nakano, GA Fishbein, GS Arsdell, SF Nelson, M Touma |
Journal of Molecular Medicine | 2021 |
Nucleoporin NUP205 plays a critical role in cilia and congenital disease
J Marquez, D Bhattacharya, CP Lusk, MK Khokha |
Developmental Biology | 2021 |
Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes
CR Balistreri, CL Ammoscato, L Scola, T Fragapane, RM Giarratana, D Lio, M Piccione |
Genes & development | 2020 |
Filaments and phenotypes: cellular roles and orphan effects associated with mutations in cytoplasmic intermediate filament proteins
MW Klymkowsky |
F1000Research | 2019 |