Page last updated: 2024-11-08

serine and Adrenoleukodystrophy

serine has been researched along with Adrenoleukodystrophy in 3 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.

Adrenoleukodystrophy: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Research

Studies (3)

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

Authors

AuthorsStudies
Perusi, C1
Gomez-Lira, M1
Mottes, M1
Pignatti, PF1
Bertini, E1
Cappa, M1
Vigliani, MC1
Schiffer, D1
Rizzuto, N1
Salviati, A1
Berger, J1
Korosec, T1
Unterrainer, G1
Molzer, B1
Cook, HW1
Thomas, SE1
Xu, Z1

Reviews

1 review available for serine and Adrenoleukodystrophy

ArticleYear
Essential fatty acids and serine as plasmalogen precursors in relation to competing metabolic pathways.
    Biochemistry and cell biology = Biochimie et biologie cellulaire, 1991, Volume: 69, Issue:7

    Topics: Adrenoleukodystrophy; Fatty Acids, Essential; Fatty Acids, Unsaturated; Glioma; Humans; Infant, Newb

1991

Other Studies

2 other studies available for serine and Adrenoleukodystrophy

ArticleYear
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
    Molecular and cellular probes, 1999, Volume: 13, Issue:3

    Topics: Adrenoleukodystrophy; Adult; ATP Binding Cassette Transporter, Subfamily D, Member 1; ATP-Binding Ca

1999
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
    Human mutation, 2000, Volume: 16, Issue:6

    Topics: Adrenal Insufficiency; Adrenoleukodystrophy; Adult; Amino Acid Substitution; Arginine; ATP Binding C

2000