Literature DB >> 34531511

A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy.

Massimo Zeviani1.   

Abstract

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Year:  2021        PMID： 34531511      PMCID： PMC8560914          DOI： 10.1038/s41431-021-00965-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation.

Authors:  Kengo Adachi; Kazuhiro Oiwa; Takayuki Nishizaka; Shou Furuike; Hiroyuki Noji; Hiroyasu Itoh; Masasuke Yoshida; Kazuhiko Kinosita
Journal:  Cell       Date:  2007-07-27       Impact factor: 41.582

Review 2.  IF(1): setting the pace of the F(1)F(o)-ATP synthase.

Authors:  Michelangelo Campanella; Nadeene Parker; Choon Hong Tan; Andrew M Hall; Michael R Duchen
Journal:  Trends Biochem Sci       Date:  2009-06-24       Impact factor: 13.807

3.  Structural organization of mitochondrial ATP synthase.

Authors:  Ilka Wittig; Hermann Schägger
Journal:  Biochim Biophys Acta       Date:  2008-04-27

4.  Hypothesis. The mechanism of ATP synthase. Conformational change by rotation of the beta-subunit.

Authors:  G B Cox; D A Jans; A L Fimmel; F Gibson; L Hatch
Journal:  Biochim Biophys Acta       Date:  1984-12-17

5.  Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Authors:  Johannes A Mayr; Vendula Havlícková; Franz Zimmermann; Iris Magler; Vilma Kaplanová; Pavel Jesina; Alena Pecinová; Hana Nusková; Johannes Koch; Wolfgang Sperl; Josef Houstek
Journal:  Hum Mol Genet       Date:  2010-06-21       Impact factor: 6.150

6.  A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

Authors:  Matthew A Lines; Alexanne Cuillerier; Pranesh Chakraborty; Turaya Naas; M Laura Duque Lasio; Jean Michaud; Chantal Pileggi; Mary-Ellen Harper; Yan Burelle; Tomi L Toler; Neal Sondheimer; Heather P Crawford; Francisca Millan; Michael T Geraghty
Journal:  Eur J Hum Genet       Date:  2021-09-06       Impact factor: 4.246

7.  Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

Authors:  L De Meirleir; S Seneca; W Lissens; I De Clercq; F Eyskens; E Gerlo; J Smet; R Van Coster
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

8.  Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.

Authors:  Qingfeng Yan; Min-Xin Guan
Journal:  Biochim Biophys Acta       Date:  2004-01-20

9.  TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

Authors:  Joe Carroll; Jiuya He; Shujing Ding; Ian M Fearnley; John E Walker
Journal:  Proc Natl Acad Sci U S A       Date:  2021-03-30       Impact factor: 11.205

Review 10.  Mitochondrial disorders.

Authors:  Massimo Zeviani; Stefano Di Donato
Journal:  Brain       Date:  2004-09-09       Impact factor: 13.501
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