Literature DB >> 9686371

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

M Huizing1, U Wendel, W Ruitenbeek, V Iacobazzi, L IJlst, P Veenhuizen, P Savelkoul, L P van den Heuvel, J A Smeitink, R J Wanders, J M Trijbels, F Palmieri.   

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Year:  1998        PMID： 9686371     DOI： 10.1023/a:1005324323401

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


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Authors:  M Krawczak; J Reiss; D N Cooper
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Review 2.  Mitochondrial metabolite transporters.

Authors:  F Palmieri; F Bisaccia; L Capobianco; V Dolce; G Fiermonte; V Iacobazzi; C Indiveri; L Palmieri
Journal:  Biochim Biophys Acta       Date:  1996-07-18

3.  Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.

Authors:  R Treisman; S H Orkin; T Maniatis
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4.  Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.

Authors:  M Busslinger; N Moschonas; R A Flavell
Journal:  Cell       Date:  1981-12       Impact factor: 41.582

5.  Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  D P Kelly; A J Whelan; M L Ogden; R Alpers; Z F Zhang; G Bellus; N Gregersen; L Dorland; A W Strauss
Journal:  Proc Natl Acad Sci U S A       Date:  1990-12       Impact factor: 11.205

6.  Mapping of the nucleotide-binding sites in the ADP/ATP carrier of beef heart mitochondria by photolabeling with 2-azido[alpha-32P]adenosine diphosphate.

Authors:  P Dalbon; G Brandolin; F Boulay; J Hoppe; P V Vignais
Journal:  Biochemistry       Date:  1988-07-12       Impact factor: 3.162

7.  The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins.

Authors:  C Indiveri; V Iacobazzi; N Giangregorio; F Palmieri
Journal:  Biochem J       Date:  1997-02-01       Impact factor: 3.857

8.  Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Authors:  S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 9.  Mitochondrial carrier proteins.

Authors:  F Palmieri
Journal:  FEBS Lett       Date:  1994-06-06       Impact factor: 4.124

10.  Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Authors:  M Huizing; V Iacobazzi; L Ijlst; P Savelkoul; W Ruitenbeek; L van den Heuvel; C Indiveri; J Smeitink; F Trijbels; R Wanders; F Palmieri
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025
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  6 in total

1.  Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

Authors:  C Costa; J M Costa; J M Nuoffer; A Slama; A Boutron; J M Saudubray; A Legrand; M Brivet
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Defects in activation and transport of fatty acids.

Authors:  M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

Authors:  Isidro Vitoria; Elena Martín-Hernández; Luis Peña-Quintana; María Bueno; Pilar Quijada-Fraile; Jaime Dalmau; Sofia Molina-Marrero; Belén Pérez; Begoña Merinero
Journal:  JIMD Rep       Date:  2015-01-23

Review 4.  Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.

Authors:  D Galron; O S Birk; A Kazanovitz; S W Moses; E Hershkovitz
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 5.  Nutritional and Hormonal Regulation of Citrate and Carnitine/Acylcarnitine Transporters: Two Mitochondrial Carriers Involved in Fatty Acid Metabolism.

Authors:  Anna M Giudetti; Eleonora Stanca; Luisa Siculella; Gabriele V Gnoni; Fabrizio Damiano
Journal:  Int J Mol Sci       Date:  2016-05-25       Impact factor: 5.923

Review 6.  The Mitochondrial Carnitine Acyl-carnitine Carrier (SLC25A20): Molecular Mechanisms of Transport, Role in Redox Sensing and Interaction with Drugs.

Authors:  Annamaria Tonazzi; Nicola Giangregorio; Lara Console; Ferdinando Palmieri; Cesare Indiveri
Journal:  Biomolecules       Date:  2021-03-31
  6 in total

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