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Items: 1 to 20 of 1155

1.
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy
Chenghui Wang, Liyao Zhang, Zhipeng Nie, Min Liang, Hanqing Liu, Qiuzi Yi, Chunyan Wang, Cheng Ai, Juanjuan Zhang, Yinglong Gao, Yanchun Ji, Min-Xin Guan
JCI Insight. 2025 Jan 9; 10(1): e182209. Published online 2024 Nov 19. doi: 10.1172/jci.insight.182209
PMCID:
PMC11721302
AbstractArticlePDF–3.6M
2.
Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies
Fabiana D’Esposito, Marco Zeppieri, Maria Francesca Cordeiro, Matteo Capobianco, Alessandro Avitabile, Giuseppe Gagliano, Mutali Musa, Piero Barboni, Caterina Gagliano
Genes (Basel) 2024 Dec; 15(12): 1559. Published online 2024 Nov 29. doi: 10.3390/genes15121559
PMCID:
PMC11675667
AbstractArticlePDF–356K
3.
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations
Julia Grzybowska-Adamowicz, Karolina Gadzalska, Paulina Jakiel, Ewa Juścińska, Monika Gorządek, Sebastian Skoczylas, Tomasz Płoszaj, Przemysława Jarosz-Chobot, Irina Kowalska, Małgorzata Myśliwiec, Agnieszka Szadkowska, Agnieszka Zmysłowska
Genes (Basel) 2024 Dec; 15(12): 1592. Published online 2024 Dec 12. doi: 10.3390/genes15121592
PMCID:
PMC11675401
AbstractArticlePDF–794K
4.
Astrocyte–neuron crosstalk through extracellular vesicle-shuttled miRNA-382-5p promotes traumatic brain injury
Qing Hu, Xun Wu, Chengxuan Guo, Tinghao Wang, Hao Guo, Jin Wang, Bodong Wang, Wenxing Cui, Hao Bai, Jinpeng Zhou, Leiyang Li, Liying Han, Liang Cao, Shunnan Ge, Guodong Gao, Ting Wang, Zhenyong Wu, Wei Guo, Yan Qu, Jing Feng, Haixiao Liu
Exp Mol Med. 2024 Dec; 56(12): 2642–2658. Published online 2024 Dec 2. doi: 10.1038/s12276-024-01355-3
PMCID:
PMC11671591
AbstractArticlePDF–17M
5.
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
Raniero Chimienti, Silvia Torchio, Gabriel Siracusano, Valentina Zamarian, Laura Monaco, Marta Tiffany Lombardo, Silvia Pellegrini, Fabio Manenti, Federica Cuozzo, Greta Rossi, Paola Carrera, Valeria Sordi, Vania Broccoli, Riccardo Bonfanti, Giorgio Casari, Giulio Frontino, Lorenzo Piemonti
Diabetologia. 2025; 68(1): 128–151. Published online 2024 Nov 9. doi: 10.1007/s00125-024-06307-0
PMCID:
PMC11663190
AbstractArticlePDF–7.7M
6.
Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma
Karina Zolotareva, Polina A. Dotsenko, Nikolay Podkolodnyy, Roman Ivanov, Aelita-Luiza Makarova, Irina Chadaeva, Anton Bogomolov, Pavel S. Demenkov, Vladimir Ivanisenko, Dmitry Oshchepkov, Mikhail Ponomarenko
Int J Mol Sci. 2024 Dec; 25(23): 12802. Published online 2024 Nov 28. doi: 10.3390/ijms252312802
PMCID:
PMC11641052
AbstractArticlePDF–2.8M
7.
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution
J. Macuada, I. Molina-Riquelme, G. Vidal, N. Pérez-Bravo, C. Vásquez-Trincado, G. Aedo, D. Lagos, P. Yu-Wai-Man, R. Horvath, T. J. Rudge, B. Cartes-Saavedra, V. Eisner
Cell Death Dis. 2024 Nov; 15(11): 870. Published online 2024 Nov 30. doi: 10.1038/s41419-024-07165-9
PMCID:
PMC11608329
AbstractArticlePDF–9.4M
8.
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study
Alessandra Pereira, Carolina Fischinger Moura de Souza, Mónica Álvarez-Córdoba, Diana Reche-López, José Antonio Sánchez-Alcázar
Orphanet J Rare Dis. 2024; 19: 442. Published online 2024 Nov 28. doi: 10.1186/s13023-024-03453-x
PMCID:
PMC11606047
AbstractArticlePDF–2.2M
9.
A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)
Polina Tsygankova, Denis Chistol, Tatiana Krylova, Igor Bychkov, Vyacheslav Tabakov, Tatiana Markova, Elena Dadali, Ekaterina Zakharova
Genes (Basel) 2024 Nov; 15(11): 1406. Published online 2024 Oct 30. doi: 10.3390/genes15111406
PMCID:
PMC11593967
AbstractArticlePDF–1.7M
10.
Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Sleep Disorders
Valerio Caruso, Luciana Rigoli
Biomolecules. 2024 Nov; 14(11): 1389. Published online 2024 Oct 31. doi: 10.3390/biom14111389
PMCID:
PMC11591713
AbstractArticlePDF–1.3M
11.
Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia
Latifa Chkioua, Yessine Amri, Chayma Sahli, Tawfik Nasri, Mohamed Omar Miladi, Taieb Massoud, Sandrine Laradi, Mohamed Ghorbel, Hassen Ben Abdennebi
BMC Genomics. 2024; 25: 1133. Published online 2024 Nov 22. doi: 10.1186/s12864-024-11060-0
PMCID:
PMC11585200
AbstractArticlePDF–4.8M
12.
TAp73 regulates mitochondrial dynamics and multiciliated cell homeostasis through an OPA1 axis
Niall A. Buckley, Andrew Craxton, Xiao-Ming Sun, Emanuele Panatta, Lucia Giraldez Pinon, Sina Beier, Lajos Kalmar, Jaime Llodrá, Nobuhiro Morone, Ivano Amelio, Gerry Melino, L. Miguel Martins, Marion MacFarlane
Cell Death Dis. 2024 Nov; 15(11): 807. Published online 2024 Nov 8. doi: 10.1038/s41419-024-07130-6
PMCID:
PMC11549358
AbstractArticlePDF–3.7M
13.
Irisin improves ROS‑induced mitohormesis imbalance in H9c2 cells
Baogui Wang, Haibo Xu, Shuai Shang, Longxiang Liu, Chunlong Sun, Wen Du
Mol Med Rep. 2024 Dec; 30(6): 240. Published online 2024 Oct 15. doi: 10.3892/mmr.2024.13364
PMCID:
PMC11544398
AbstractArticlePDF–3.5M
14.
Mitochondrial tRNAGlu 14693A > G Mutation, an “Enhancer” to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy
Lihao Jin, Dingyi Gan, Wentao He, Na Wu, Shuchenlu Xiang, Yinsheng Wei, Gilbert Eriani, Yanchun Ji, Min‐Xin Guan, Meng Wang
Adv Sci (Weinh) 2024 Nov; 11(41): 2401856. Published online 2024 Sep 12. doi: 10.1002/advs.202401856
PMCID:
PMC11538713
AbstractArticlePDF–4.0M
15.
Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2
Deborah Grifagni, Davide Doni, Bianca Susini, Bruno M. Fonseca, Ricardo O. Louro, Paola Costantini, Simone Ciofi‐Baffoni
Protein Sci. 2024 Nov; 33(11): e5197. Published online 2024 Oct 28. doi: 10.1002/pro.5197
PMCID:
PMC11515921
AbstractArticlePDF–8.8M
16.
Apoptosis, Mitochondrial Autophagy, Fission, and Fusion Maintain Mitochondrial Homeostasis in Mouse Liver Under Tail Suspension Conditions
Lu-Fan Li, Jiao Yu, Rui Li, Shan-Shan Li, Jun-Yao Huang, Ming-Di Wang, Li-Na Jiang, Jin-Hui Xu, Zhe Wang
Int J Mol Sci. 2024 Oct; 25(20): 11196. Published online 2024 Oct 18. doi: 10.3390/ijms252011196
PMCID:
PMC11508632
AbstractArticlePDF–15M
17.
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center
Carolina Paniago Lopes, Gentil Ferreira Gonçalves, Neto, Maria Fernanda Vanti Macedo Paulino, Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Elizabeth João Pavin, Ikaro Soares Santos Breder, Mariana Zorron Mei Hsia Pu, Sofia Helena Valente de Lemos-Marini, Gil Guerra, Junior
Arch Endocrinol Metab. 2024; 68: e240091. Published online 2024 Sep 24. doi: 10.20945/2359-4292-2024-0091
PMCID:
PMC11460961
AbstractArticlePDF–318K
18.
Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2
Sivakumar Boopathy, Bridget E. Luce, Camila Makhlouta Lugo, Pusparanee Hakim, Julie McDonald, Ha Lin Kim, Jackeline Ponce, Beatrix M. Ueberheide, Luke H. Chao
J Biol Chem. 2024 Oct; 300(10): 107740. Published online 2024 Aug 31. doi: 10.1016/j.jbc.2024.107740
PMCID:
PMC11459905
AbstractArticlePDF–2.8M
19.
ATF4-dependent and independent mitokine secretion from OPA1 deficient skeletal muscle in mice is sexually dimorphic
Jennifer Streeter, Luis Persaud, Jason Gao, Deeraj Manika, Will Fairman, Luis Miguel García-Peña, Alex Marti, Chethan Manika, Shreya Gaddi, Brandon Schickling, Renata O. Pereira, E. Dale Abel
Front Endocrinol (Lausanne) 2024; 15: 1325286. Published online 2024 Sep 24. doi: 10.3389/fendo.2024.1325286
PMCID:
PMC11458430
AbstractArticlePDF–4.0M
20.
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Sci Rep. 2024; 14: 22956. Published online 2024 Oct 3. doi: 10.1038/s41598-024-74364-x
PMCID:
PMC11450207
AbstractArticlePDF–1.6M

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