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pyridoxal phosphate and Hereditary Sensory and Autonomic Neuropathies

pyridoxal phosphate has been researched along with Hereditary Sensory and Autonomic Neuropathies in 1 studies

Pyridoxal Phosphate: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE).
pyridoxal 5'-phosphate : The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal.

Hereditary Sensory and Autonomic Neuropathies: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)

Research Excerpts

ExcerptRelevanceReference
"The three human hLCB2a HSAN1 mutations map onto Sp SPT (V246M, G268V, and G385F), and these mutant mimics reveal that the amino acid changes have varying impacts; they perturb the PLP cofactor binding, reduce the affinity for both substrates, decrease the enzyme activity, and, in the most severe case, cause the protein to be expressed in an insoluble form."1.39The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations. ( Beattie, AE; Campopiano, DJ; Dunn, TM; Frankova, L; Gupta, SD; Harmon, JM; Kazlauskaite, A, 2013)

Research

Studies (1)

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

Authors

AuthorsStudies
Beattie, AE1
Gupta, SD1
Frankova, L1
Kazlauskaite, A1
Harmon, JM1
Dunn, TM1
Campopiano, DJ1

Other Studies

1 other study available for pyridoxal phosphate and Hereditary Sensory and Autonomic Neuropathies

ArticleYear
The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.
    BioMed research international, 2013, Volume: 2013

    Topics: Amino Acid Sequence; Bacterial Proteins; Hereditary Sensory and Autonomic Neuropathies; Humans; Kine

2013