Molecular biology of AMP deaminase deficiency (Q40672697)

22 September 2017

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title

Molecular biology of AMP deaminase deficiency (English)

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22 September 2017

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M Gross

1

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PubMed ID

8032342

22 September 2017

language of work or name

English

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publication date

1 April 1994

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International Journal of Clinical Pharmacy

22 September 2017

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22 September 2017

16

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22 September 2017

55-61

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22 September 2017

2

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Developmental forms of human skeletal-muscle AMP deaminase. The kinetic and regulatory properties of the enzyme

22 September 2017

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Expression of three stage-specific transcripts of AMP deaminase during myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

A novel pathway for alternative splicing: identification of an RNA intermediate that generates an alternative 5' splice donor site not present in the primary transcript of AMPD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Familial myoadenylate deaminase deficiency and exertional myalgia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Muscle adenylic acid deaminase activity: Selective decrease in early-onset Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Molecular analysis of the myoadenylate deaminase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01880656

Enzyme defect in primary gout

21 January 2018

1 reference

12 December 2020

AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies

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12 December 2020

Evidence for sequential expression of multiple AMP deaminase isoforms during skeletal muscle development

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12 December 2020

Ribose administration during exercise: effects on substrates and products of energy metabolism in healthy subjects and a patient with myoadenylate deaminase deficiency

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12 December 2020

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

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12 December 2020

AMP deamination and IMP reamination in working skeletal muscle

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12 December 2020

Distribution of AMP deaminase isozymes in various human blood cells

1 reference

12 December 2020

Ergometer exercise in myoadenylate deaminase deficient patients

1 reference

12 December 2020

Normal restriction pattern (Hind III) of the myoadenylate deaminase gene in enzyme deficient patients

1 reference

12 December 2020

Characterization of the human and rat myoadenylate deaminase genes

1 reference

12 December 2020

Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency

1 reference

12 December 2020

Muscle adenylate deaminase deficiency. Report of six new cases

1 reference

12 December 2020

Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons

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12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

Effect of exercise on AMP deaminase and adenylosuccinase in rat skeletal muscle

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12 December 2020

Adenylate deaminase. A multigene family in humans and rats

1 reference

12 December 2020

Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies

1 reference

12 December 2020

Deficiency of AMP deaminase in human erythrocytes

1 reference

12 December 2020

Long-range restriction site mapping of a syntenic segment conserved between human chromosome 1 and mouse chromosome 3.

1 reference

12 December 2020

Abnormal AMP deaminase in primary gout

1 reference

12 December 2020

Ammonia production in muscle: the purine nucleotide cycle

1 reference

12 December 2020

AMP deaminase isozymes in human tissues

1 reference

12 December 2020

Distribution of AMP-deaminase isozymes in rat tissues.

1 reference

12 December 2020

Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose

1 reference

12 December 2020

Myoadenylate deaminase deficiency

1 reference

12 December 2020

Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA

1 reference

12 December 2020

Myoadenylate deaminase deficiency: primary and secondary types

1 reference

12 December 2020

Serum levels of glucose, insulin, and C-peptide during long-term D-ribose administration in man

1 reference

12 December 2020

Ampd-2 maps to distal mouse chromosome 3 in linkage with Ampd-1

1 reference

12 December 2020

Alternative splicing: a ubiquitous mechanism for the generation of multiple protein isoforms from single genes

1 reference

12 December 2020

Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout

1 reference

12 December 2020

Deficiency of erythrocyte type isozyme of AMP deaminase in human

1 reference

12 December 2020

Muscle AMP aminohydrolase. II. Distribution of AMP aminohydrolase, myokinase and creatine kinase activities in skeletal muscle

1 reference

12 December 2020

Immunologic evidence for three isoforms of AMP deaminase (AMPD) in mature skeletal muscle

1 reference

12 December 2020

Ammonia production in muscle and other tissues: the purine nucleotide cycle

1 reference

12 December 2020

Cloning and sequence of rat myoadenylate deaminase cDNA. Evidence for tissue-specific and developmental regulation

1 reference

12 December 2020

Isozymes of rat brain AMP deaminase: Developmental changes and characterizations of five forms

1 reference

12 December 2020

Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy)

1 reference

12 December 2020

Levels of adenylate deaminase, adenylate kinase, and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: Evidence for a carrier state of myoadenylate deaminase deficiency

1 reference

12 December 2020

Deficiency of AMP deaminase in erythrocytes

1 reference

12 December 2020

Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

1 reference

12 December 2020

Myoadenylate Deaminase Deficiency: A New Disease of Muscle

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12 December 2020

Molecular basis of AMP deaminase deficiency in skeletal muscle

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12 December 2020

AMP-deaminase from human skeletal muscle. subunit structure, amino-acid composition and metal content of the homogenous enzyme

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01880656

1 reference

22 September 2017

1 reference

PubMed ID

8032342