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MetabolomicsSMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral ...

2023-11-27 | MTBLS8784 | MetaboLights
ProteomicsNovel protein biomarkers of monoamine metabolism defects correlate with disease severity
Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. Objectives: To conduct proteomic studies i...
ORGANISM(S): Homo sapiens (Human) 
2020-11-16 | PXD021642 | Pride
Proteomics Monoamine metabolism defects 
UnknownSMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.
Not available
S-EPMC10643621 | biostudies-literature
UnknownGenetics of monoamine neurotransmitter disorders.
Not available
S-EPMC4729089 | biostudies-literature
UnknownSingle-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders.
Not available
S-EPMC6044980 | biostudies-literature
UnknownDysregulation of endometrial stromal serotonin homeostasis leading to abnormal phosphatidylcholine metabolism impairs decidualization in patients with recurrent implantation failure.
Not available
S-EPMC11293872 | biostudies-literature
TranscriptomicsAn iPSC-derived midbrain dopaminergic neuronal model of aromatic amino acid decarboxylase (AADC) deficiency gives insight into neurodevelopmental disease features
Aromatic L-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. Affected patients have severe cognitive and motor delay, recurrent oculogyric crises, a complex movement disorder and high ris...
ORGANISM(S): Homo sapiens 
2021-03-31 | GSE153990 | GEO
UnknownAmelioration of metabolic and behavioral defects through base editing in the Pah<sup>R408W</sup> phenylketonuria mouse model.
Not available
S-EPMC11764323 | biostudies-literature
UnknownMaternal and offspring pools of osteocalcin influence brain development and functions.
Not available
S-EPMC3864001 | biostudies-literature
UnknownLC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.
Not available
S-EPMC5059177 | biostudies-literature
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