Literature DB >> 30006447

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Simon Berhe1, Matthew M Heeney2, Dean R Campagna1, John F Thompson3, Eric J White3, Tristen Ross3, Roy W A Peake4, Jeffery D Hanrahan5, Vilmarie Rodriguez6, Deborah L Renaud6,7, Mrinal S Patnaik8, Eugenia Chang9, Sylvia S Bottomley10, Mark D Fleming11,2.   

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Year:  2018        PMID： 30006447      PMCID： PMC6269299          DOI： 10.3324/haematol.2018.199109

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Authors:  A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

2.  Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

Authors:  Avraham Zeharia; Nathan Fischel-Ghodsian; Kari Casas; Yelena Bykhocskaya; Hana Tamari; Dorit Lev; Marc Mimouni; Tally Lerman-Sagie
Journal:  J Child Neurol       Date:  2005-05       Impact factor: 1.987

3.  Molecular basis of diseases caused by the mtDNA mutation m.8969G>A in the subunit a of ATP synthase.

Authors:  Natalia Skoczeń; Alain Dautant; Krystyna Binko; François Godard; Marine Bouhier; Xin Su; Jean-Paul Lasserre; Marie-France Giraud; Déborah Tribouillard-Tanvier; Huimei Chen; Jean-Paul di Rago; Roza Kucharczyk
Journal:  Biochim Biophys Acta Bioenerg       Date:  2018-05-18       Impact factor: 3.991

4.  A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Authors:  Daniel A Lichtenstein; Andrew W Crispin; Anoop K Sendamarai; Dean R Campagna; Klaus Schmitz-Abe; Cristovao M Sousa; Martin D Kafina; Paul J Schmidt; Charlotte M Niemeyer; John Porter; Alison May; Mrinal M Patnaik; Matthew M Heeney; Alec Kimmelman; Sylvia S Bottomley; Barry H Paw; Kyriacos Markianos; Mark D Fleming
Journal:  Blood       Date:  2016-08-03       Impact factor: 22.113

5.  Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Authors:  Pirjo Isohanni; Christopher J Carroll; Christopher B Jackson; Max Pohjanpelto; Tuula Lönnqvist; Anu Suomalainen
Journal:  Neurogenetics       Date:  2018-01-19       Impact factor: 2.660

6.  Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Authors:  Lindsay C Burrage; Sha Tang; Jing Wang; Taraka R Donti; Magdalena Walkiewicz; J Michael Luchak; Li-Chieh Chen; Eric S Schmitt; Zhiyv Niu; Rodrigo Erana; Jill V Hunter; Brett H Graham; Lee-Jun Wong; Fernando Scaglia
Journal:  Mol Genet Metab       Date:  2014-06-30       Impact factor: 4.797

7.  Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Authors:  Anke K Bergmann; Dean R Campagna; Erin M McLoughlin; Suneet Agarwal; Mark D Fleming; Sylvia S Bottomley; Ellis J Neufeld
Journal:  Pediatr Blood Cancer       Date:  2010-02       Impact factor: 3.167

8.  The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Authors:  Pingping Jiang; Xiaofen Jin; Yanyan Peng; Meng Wang; Hao Liu; Xiaoling Liu; Zengjun Zhang; Yanchun Ji; Juanjuan Zhang; Min Liang; Fuxin Zhao; Yan-Hong Sun; Minglian Zhang; Xiangtian Zhou; Ye Chen; Jun Qin Mo; Taosheng Huang; Jia Qu; Min-Xin Guan
Journal:  Hum Mol Genet       Date:  2015-12-08       Impact factor: 6.150

9.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors:  H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

Review 10.  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
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  1 in total

Review 1.  The molecular genetics of sideroblastic anemia.

Authors:  Sarah Ducamp; Mark D Fleming
Journal:  Blood       Date:  2018-11-06       Impact factor: 25.476
  1 in total

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