(Q54499768)

30 May 2018

title

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (English)

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30 May 2018

carnitine-acylcarnitine translocase deficiency

main subject

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author

Vito Iacobazzi

1

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30 May 2018

Federica Invernizzi

2

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30 May 2018

Barbara Garavaglia

6

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30 May 2018

Carlo Dionisi-Vici

7

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30 May 2018

Antonia Ribes

object named as

Antonia Ribes

8

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Silvia Baratta

object named as

Silvia Baratta

3

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Rossella Parini

object named as

Rossella Parini

9

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author name string

Roser Pons

4

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30 May 2018

Wendy Chung

5

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30 May 2018

Maria Dolores Huertas

10

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30 May 2018

Susana Roldan

11

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30 May 2018

Graziantonio Lauria

12

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30 May 2018

Ferdinando Palmieri

13

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30 May 2018

Franco Taroni

14

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30 May 2018

publication date

1 October 2004

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30 May 2018

published in

Human Mutation

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30 May 2018

volume

24

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30 May 2018

issue

4

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30 May 2018

page(s)

312-320

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30 May 2018

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency

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The ARG11 gene of Saccharomyces cerevisiae encodes a mitochondrial integral membrane protein required for arginine biosynthesis

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

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7 January 2021

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

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7 January 2021

The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.

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7 January 2021

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.

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7 January 2021

Identification and purification of the carnitine carrier from rat liver mitochondria

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7 January 2021

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

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Bacterial overexpression, purification, and reconstitution of the carnitine/acylcarnitine carrier from rat liver mitochondria

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Site-directed mutagenesis and chemical modification of the six native cysteine residues of the rat mitochondrial carnitine carrier: implications for the role of cysteine-136.

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Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

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Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome

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A simple salting out procedure for extracting DNA from human nucleated cells

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Construction of a novel database containing aberrant splicing mutations of mammalian genes

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Mitochondrial metabolite carrier proteins: purification, reconstitution, and transport studies

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7 January 2021

A mitochondrial carnitine acylcarnitine translocase system

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7 January 2021

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

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7 January 2021

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

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7 January 2021

The mechanism of fatty acid uptake by heart mitochondria: an acylcarnitine-carnitine exchange

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7 January 2021

A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting

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7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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7 January 2021

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

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7 January 2021

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

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7 January 2021

Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization

1 reference

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7 January 2021

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20085

1 reference

30 May 2018

PubMed ID

15365988

1 reference

30 May 2018