CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (Q45953629)

18 December 2017

title

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (English)

1 reference

18 December 2017

carnitine palmitoyltransferase II deficiency

main subject

0 references

8

Georgirene D Vladutiu

1 reference

18 December 2017

author name string

Paul J Isackson

1

1 reference

18 December 2017

Michael J Bennett

2

1 reference

18 December 2017

Uta Lichter-Konecki

3

1 reference

18 December 2017

Mary Willis

4

1 reference

18 December 2017

William L Nyhan

5

1 reference

18 December 2017

V Reid Sutton

6

1 reference

18 December 2017

Ingrid Tein

7

1 reference

18 December 2017

publication date

11 June 2008

1 reference

18 December 2017

Molecular Genetics and Metabolism

published in

1 reference

18 December 2017

volume

94

1 reference

18 December 2017

issue

4

1 reference

18 December 2017

page(s)

422-427

1 reference

18 December 2017

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine Palmitoyltransferase II Deficiency: A Clinical, Biochemical, and Molecular Review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Antenatal presentation of carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structures of murine carnitine acetyltransferase in ternary complexes with its substrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

The conserved serine-threonine-serine motif of the carnitine acyltransferases is involved in carnitine binding and transition-state stabilization: a site-directed mutagenesis study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structure of rat carnitine palmitoyltransferase II (CPT-II)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structure of carnitine acetyltransferase and implications for the catalytic mechanism and fatty acid transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A novel mutation identified in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

10.1016/J.YMGME.2008.05.002

7 January 2021

Identifiers

DOI

1 reference

18 December 2017

1 reference

18 December 2017