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aspartic acid and Hypophosphatasia

aspartic acid has been researched along with Hypophosphatasia 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.

Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)

Research Excerpts

ExcerptRelevanceReference
"One point mutation which converts glycine-317 to aspartate of tissue-nonspecific alkaline phosphatase (TNSALP) was reported to be associated with lethal hypophosphatasia (Greenberg, C."3.70Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. ( Amizuka, N; Fukushi, M; Hoshi, K; Ikehara, Y; Kumagai, H; Misumi, Y; Oda, K; Omura, S; Ozawa, H, 1998)
"Upon treatment with brefeldin A, TNSALP (N153D) was still co-localized with GM-130, further supporting the finding that this mutant is localized in the cis-Golgi."1.31Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia. ( Amizuka, N; Ito, M; Oda, K; Ozawa, H, 2002)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's2 (66.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fukushi, M1
Amizuka, N3
Hoshi, K1
Ozawa, H3
Kumagai, H1
Omura, S2
Misumi, Y1
Ikehara, Y2
Oda, K3
Fukushi-IriƩ, M1
Ito, M2
Amaya, Y1

Other Studies

3 other studies available for aspartic acid and Hypophosphatasia

ArticleYear
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.
    Biochemical and biophysical research communications, 1998, May-29, Volume: 246, Issue:3

    Topics: Alkaline Phosphatase; Aspartic Acid; Biological Transport; Cell Compartmentation; Glycine; Humans; H

1998
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
    The Biochemical journal, 2000, Jun-15, Volume: 348 Pt 3

    Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Animals; Arginine; Aspartic Acid; COS Cells;

2000
Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia.
    The Biochemical journal, 2002, Feb-01, Volume: 361, Issue:Pt 3

    Topics: Alkaline Phosphatase; Amino Acids; Animals; Asparagine; Aspartic Acid; Biological Transport; Biotiny

2002