Literature DB >> 8739954

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts.

P G Barth1, C Van den Bogert, P A Bolhuis, H R Scholte, A H van Gennip, R B Schutgens, A G Ketel.   

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Year:  1996        PMID： 8739954     DOI： 10.1007/bf01799418

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa.

Authors:  H Schägger; G von Jagow
Journal:  Anal Biochem       Date:  1987-11-01       Impact factor: 3.365

Review 2.  Multiple syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; O N Elpeleg; C Jakobs; H Costeff; R I Kelley
Journal:  Pediatr Neurol       Date:  1993 Mar-Apr       Impact factor: 3.372

3.  Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; W G Sherwood; G F Hoffman; D A Stumpf; I Dianzani; R B Schutgens; P G Barth; U Weismann; C Bachmann; P Schrynemackers-Pitance
Journal:  J Pediatr       Date:  1991-06       Impact factor: 4.406

4.  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.

Authors:  R I Kelley; J P Cheatham; B J Clark; M A Nigro; B R Powell; G W Sherwood; J T Sladky; W P Swisher
Journal:  J Pediatr       Date:  1991-11       Impact factor: 4.406

5.  Barth syndrome: clinical observations and genetic linkage studies.

Authors:  J Christodoulou; R R McInnes; V Jay; G Wilson; L E Becker; D C Lehotay; B A Platt; P J Bridge; B H Robinson; J T Clarke
Journal:  Am J Med Genet       Date:  1994-04-15

6.  An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

Authors:  P G Barth; H R Scholte; J A Berden; J M Van der Klei-Van Moorsel; I E Luyt-Houwen; E T Van 't Veer-Korthof; J J Van der Harten; M A Sobotka-Plojhar
Journal:  J Neurol Sci       Date:  1983-12       Impact factor: 3.181

7.  Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Authors:  L C Adès; A K Gedeon; M J Wilson; M Latham; M W Partington; J C Mulley; J Nelson; K Lui; D O Sillence
Journal:  Am J Med Genet       Date:  1993-02-01

8.  Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Authors:  L G Nijtmans; P G Barth; C R Lincke; M J Van Galen; R Zwart; P Klement; P A Bolhuis; W Ruitenbeek; R J Wanders; C Van den Bogert
Journal:  Biochim Biophys Acta       Date:  1995-04-24

9.  Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Authors:  P A Bolhuis; G W Hensels; T J Hulsebos; F Baas; P G Barth
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  9 in total
  41 in total

1.  Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Authors:  J Johnston; R I Kelley; A Feigenbaum; G F Cox; G S Iyer; V L Funanage; R Proujansky
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.

Authors:  Meghan S Soustek; Darin J Falk; Cathryn S Mah; Matthew J Toth; Michael Schlame; Alfred S Lewin; Barry J Byrne
Journal:  Hum Gene Ther       Date:  2011-05-19       Impact factor: 5.695

3.  Multiple presentation of mitochondrial disorders.

Authors:  A Nissenkorn; A Zeharia; D Lev; A Fatal-Valevski; V Barash; A Gutman; S Harel; T Lerman-Sagie
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

Review 4.  Mitochondrial dysfunctions in barth syndrome.

Authors:  Sagnika Ghosh; Donna M Iadarola; Writoban Basu Ball; Vishal M Gohil
Journal:  IUBMB Life       Date:  2019-02-11       Impact factor: 3.885

Review 5.  Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.

Authors:  Nikita Ikon; Robert O Ryan
Journal:  Lipids       Date:  2017-01-09       Impact factor: 1.880

6.  Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria.

Authors:  Catherine H Le; Lindsay G Benage; Kalyn S Specht; Lance C Li Puma; Christopher M Mulligan; Adam L Heuberger; Jessica E Prenni; Steven M Claypool; Kathryn C Chatfield; Genevieve C Sparagna; Adam J Chicco
Journal:  J Biol Chem       Date:  2020-07-14       Impact factor: 5.157

7.  Cardiolipin and mitochondrial phosphatidylethanolamine have overlapping functions in mitochondrial fusion in Saccharomyces cerevisiae.

Authors:  Amit S Joshi; Morgan N Thompson; Naomi Fei; Maik Hüttemann; Miriam L Greenberg
Journal:  J Biol Chem       Date:  2012-03-20       Impact factor: 5.157

Review 8.  TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Authors:  Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir Guevara-Gonzalez; Peipei Ping
Journal:  Gene       Date:  2019-10-21       Impact factor: 3.688

9.  Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome.

Authors:  Katrin Brandner; David U Mick; Ann E Frazier; Rebecca D Taylor; Chris Meisinger; Peter Rehling
Journal:  Mol Biol Cell       Date:  2005-08-31       Impact factor: 4.138

10.  Functional characterization of the CgPGS1 gene reveals a link between mitochondrial phospholipid homeostasis and drug resistance in Candida glabrata.

Authors:  Monika Batova; Silvia Borecka-Melkusova; Maria Simockova; Vladimira Dzugasova; Eduard Goffa; Julius Subik
Journal:  Curr Genet       Date:  2008-03-15       Impact factor: 3.886
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