Literature DB >> 26803244

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Atsuko Imai1, Shuhei Fujita2, Yoshihito Kishita3, Masakazu Kohda4, Yoshimi Tokuzawa3, Tomoko Hirata4, Yosuke Mizuno3, Hiroko Harashima5, Akihiro Nakaya6, Yasushi Sakata7, Atsuhito Takeda8, Masato Mori9, Kei Murayama10, Akira Ohtake5, Yasushi Okazaki11.   

Abstract

Entities:  

Keywords:  Infantile cardiomyopathy; Mitochondrial ATPase 6; Mitochondrial ATPase 8; Mitochondrial cardiomyopathy; Mitochondrial respiratory chain complex V deficiency; m.8528T>C

Mesh：

Substances：

Year:  2016        PMID： 26803244     DOI： 10.1016/j.ijcard.2016.01.026

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  10 in total

1.  Deleterious mtDNA mutations are common in mature oocytes.

Authors:  Hong Ma; Tomonari Hayama; Crystal Van Dyken; Hayley Darby; Amy Koski; Yeonmi Lee; Nuria Marti Gutierrez; Satsuki Yamada; Ying Li; Michael Andrews; Riffat Ahmed; Dan Liang; Thanasup Gonmanee; Eunju Kang; Mohammed Nasser; Beth Kempton; John Brigande; Trevor J McGill; Andre Terzic; Paula Amato; Shoukhrat Mitalipov
Journal:  Biol Reprod       Date:  2020-03-13       Impact factor: 4.285

2.  Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome.

Authors:  Kirana Veenin; Duangrurdee Wattanasirichaigoon; Bhoom Suktitipat; Saisuda Noojarern; Patcharee Lertrit; Thipwimol Tim-Aroon; Supannee Kaewsutthi; Suporn Treepongkaruna
Journal:  Front Pediatr       Date:  2022-05-24       Impact factor: 3.569

3.  A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Authors:  Laura Kytövuori; Joonas Lipponen; Harri Rusanen; Tuomas Komulainen; Mika H Martikainen; Kari Majamaa
Journal:  J Neurol       Date:  2016-08-08       Impact factor: 4.849

4.  Mitochondrial gene mutations in pediatric septic shock.

Authors:  Junsung Park; Eunju Kang; Seoon Kang; Deokhoon Kim; Dahyun Kim; Seong Jong Park; Won Kyoung Jhang
Journal:  Pediatr Res       Date:  2021-01-27       Impact factor: 3.756

Review 5.  ATP Synthase Diseases of Mitochondrial Genetic Origin.

Authors:  Alain Dautant; Thomas Meier; Alexander Hahn; Déborah Tribouillard-Tanvier; Jean-Paul di Rago; Roza Kucharczyk
Journal:  Front Physiol       Date:  2018-04-04       Impact factor: 4.566

6.  Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.

Authors:  Keiichi Hirono; Fukiko Ichida; Natsuhito Nishio; Minako Ogawa-Tominaga; Takuya Fushimi; Rene G Feichtinger; Johannes A Mayr; Masakazu Kohda; Yoshihito Kishita; Yasushi Okazaki; Akira Ohtake; Kei Murayama
Journal:  Clin Case Rep       Date:  2019-02-07

7.  Mitochondrial DNA variation in sudden cardiac death: a population-based study.

Authors:  Laura Kytövuori; Juhani Junttila; Heikki Huikuri; Sirkka Keinänen-Kiukaanniemi; Kari Majamaa; Mika H Martikainen
Journal:  Int J Legal Med       Date:  2019-05-31       Impact factor: 2.686

Review 8.  An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Authors:  Federica Marra; Paola Lunetti; Rosita Curcio; Francesco Massimo Lasorsa; Loredana Capobianco; Vito Porcelli; Vincenza Dolce; Giuseppe Fiermonte; Pasquale Scarcia
Journal:  Biomolecules       Date:  2021-11-04

Review 9.  Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Authors:  Liang Wang; Ziyun Yang; Xiumei He; Shiming Pu; Cheng Yang; Qiong Wu; Zuping Zhou; Xiaobo Cen; Hongxia Zhao
Journal:  Front Mol Neurosci       Date:  2022-09-07       Impact factor: 6.261

10.  A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

Authors:  Konstantina Fragaki; Annabelle Chaussenot; Valerie Serre; Cecile Acquaviva; Sylvie Bannwarth; Cecile Rouzier; Brigitte Chabrol; Veronique Paquis-Flucklinger
Journal:  Mol Genet Metab Rep       Date:  2019-11-21
  10 in total

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