Page last updated: 2024-11-08

serine and Menkes Kinky Hair Syndrome

serine has been researched along with Menkes Kinky Hair Syndrome in 1 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Mori, M1
Nishimura, M1

Other Studies

1 other study available for serine and Menkes Kinky Hair Syndrome

ArticleYear
A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.
    Mammalian genome : official journal of the International Mammalian Genome Society, 1997, Volume: 8, Issue:6

    Topics: Adenosine Triphosphatases; Animals; Carrier Proteins; Cation Transport Proteins; Copper-Transporting

1997