Zobrazeno 1 - 10
of 268
pro vyhledávání: '"Mitochondrial Cardiomyopathy"'
Autor:
Koichiro Tashima, Masakiyo Hayashi, Takafumi Oyoshi, Jo Uemura, Shinnosuke Korematsu, Naoyuki Hirata
Publikováno v:
JA Clinical Reports, Vol 10, Iss 1, Pp 1-5 (2024)
Abstract Background Mitochondrial cardiomyopathy occurs when impaired mitochondrial energy production leads to myocardial dysfunction. Anesthetic management in such cases is challenging due to risks of circulatory depression associated with anesthesi
Externí odkaz:
https://doaj.org/article/a1cacccdbb8a4f37bfb886a30323d4d3
Autor:
Nneka Southwell, Onorina Manzo, Sandra Bacman, Dazhi Zhao, Nicole M Sayles, Jalia Dash, Keigo Fujita, Marilena D’Aurelio, Annarita Di Lorenzo, Giovanni Manfredi, Hibiki Kawamata
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 6, Pp 1352-1378 (2024)
Abstract Mutations in CHCHD10, a mitochondrial protein with undefined functions, are associated with autosomal dominant mitochondrial diseases. Chchd10 knock-in mice harboring a heterozygous S55L mutation (equivalent to human pathogenic S59L) develop
Externí odkaz:
https://doaj.org/article/06da78e884b74bbabfb6411ca3018288
Autor:
Chuangsen Fang, Ming Lan
Publikováno v:
BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background The clinical features of mitochondrial cardiomyopathy (MCM) are diverse. It can present as hypertrophic cardiomyopathy or dilated cardiomyopathy. The diagnosis of MCM is challenging and usually based on biopsy. Case presentation T
Externí odkaz:
https://doaj.org/article/c1df6c86260d423da45d06782928ba94
Autor:
Jinjuan Yang, Xiaoxian Zhang, Meng Kou, Boon Xuan Lian, Zhixin Chiang, Jace Chen, Xiaoya Zhou, Ziyue Li, Jinqiu Zhang, Xiao Su, Qizhou Lian
Publikováno v:
Translational Medicine of Aging, Vol 7, Iss , Pp 98-108 (2023)
Genetic mitochondrial cardiomyopathy (MCM) is a myocardial condition characterized by abnormal cardiac structure and function secondary to genetic defects. Severity can vary from asymptomatic to severe with manifestations that include heart failure,
Externí odkaz:
https://doaj.org/article/90f7f2eb9ce34e87852ecafdee37d3cf
Autor:
Sabine Rebs, Katrin Streckfuss-Bömeke
Publikováno v:
Frontiers in Molecular Medicine, Vol 3 (2023)
Mutations in the mitochondrial-DNA or mitochondria related nuclear-encoded-DNA lead to various multisystemic disorders collectively termed mitochondrial diseases. One in three cases of mitochondrial disease affects the heart muscle, which is called m
Externí odkaz:
https://doaj.org/article/8e0abb3b866e4bc58b9976c637a6428e
Akademický článek
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Autor:
Yulin Zou, Yanyan Yang, Xiuxiu Fu, Xiangqin He, Meixin Liu, Tingyu Zong, Xiaolu Li, Lynn Htet Aung, Zhibin Wang, Tao Yu
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 372-387 (2021)
Aminoacyl-tRNA synthetases (ARSs) are widely found in organisms, which can activate amino acids and make them bind to tRNA through ester bond to form the corresponding aminoyl-tRNA. The classic function of ARS is to provide raw materials for protein
Externí odkaz:
https://doaj.org/article/3ba886f7792542d9a626c6357f7d90bd
Autor:
Priya Bhardwaj, Christoffer Rasmus Vissing, Niels Kjær Stampe, Kasper Rossing, Alex Hørby Christensen, Thomas Hartvig Lindkær Jensen, Bo Gregers Winkel
Publikováno v:
Cardiogenetics, Vol 11, Iss 3, Pp 122-128 (2021)
Background: AARS2 encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in AARS2 have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old gir
Externí odkaz:
https://doaj.org/article/ee095fae92e649bca015b5a946feeea2
Autor:
Jamie O. Yang, Hapet Shaybekyan, Yan Zhao, Xuedong Kang, Gregory A. Fishbein, Negar Khanlou, Juan C. Alejos, Nancy Halnon, Gary Satou, Reshma Biniwale, Hane Lee, Glen Van Arsdell, Stanley F. Nelson, Marlin Touma, the UCLA Clinical Genomics Center, the UCLA Congenital Heart Defects-BioCore Faculty
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2022)
We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heter
Externí odkaz:
https://doaj.org/article/3249993441454cc5a561ada6b4c8bd1b
Autor:
Mario G. Pavez-Giani, Lukas Cyganek
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
Around one third of patients with mitochondrial disorders develop a kind of cardiomyopathy. In these cases, severity is quite variable ranging from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac
Externí odkaz:
https://doaj.org/article/122e0eaeeadd4940965b8e12a44a9f7f