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aspartic acid and Ehlers-Danlos Syndrome

aspartic acid has been researched along with Ehlers-Danlos Syndrome in 3 studies

Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.

Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

Research Excerpts

ExcerptRelevanceReference
"A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate."7.68Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. ( Kontusaari, S; Kuivaniemi, H; Pope, FM; Prockop, DJ; Stolle, C; Tromp, G, 1992)
"A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate."3.68Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. ( Kontusaari, S; Kuivaniemi, H; Pope, FM; Prockop, DJ; Stolle, C; Tromp, G, 1992)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Nishiyama, Y1
Nejima, J1
Watanabe, A1
Kotani, E1
Sakai, N1
Hatamochi, A1
Shinkai, H1
Kiuchi, K1
Tamura, K1
Shimada, T1
Takano, T1
Katayama, Y1
Kontusaari, S1
Tromp, G2
Kuivaniemi, H2
Stolle, C2
Pope, FM2
Prockop, DJ2

Other Studies

3 other studies available for aspartic acid and Ehlers-Danlos Syndrome

ArticleYear
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
    Journal of internal medicine, 2001, Volume: 249, Issue:1

    Topics: Adult; Aneurysm; Aspartic Acid; Collagen; Coronary Disease; Ehlers-Danlos Syndrome; Emphysema; Glyci

2001
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
    American journal of human genetics, 1992, Volume: 51, Issue:3

    Topics: Adult; Aspartic Acid; Base Sequence; Ehlers-Danlos Syndrome; Female; Glycine; Humans; Molecular Sequ

1992
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
    The Journal of biological chemistry, 1989, Nov-15, Volume: 264, Issue:32

    Topics: Adult; Aspartic Acid; Base Sequence; Codon; DNA; DNA-Directed DNA Polymerase; Ehlers-Danlos Syndrome

1989