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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
ProteomicsXL-MS analysis of human tyrosine hydroxylase
Tyrosine hydroxylase (TH) is a highly regulated enzyme that catalyses the rate-limiting step in the biosynthesis of dopamine (DA) and other catecholamines. Mutations and dysfunction in this enzyme lead to DA deficiency and parkinsonisms of different severity. An understanding of TH deficiency at the...
ORGANISM(S): Homo sapiens (Human) 
2021-12-22 | PXD024519 | Pride
Xl-ms Dopamine Tyrosine hydroxylase Bs3 
ProteomicsStructural recognition and stabilization of tyrosine hydroxylase by the J-domain protein DNAJC12
Pathogenic variants of the J-domain protein DNAJC12, a co-chaperone of Hsp70, cause parkinsonism, which seems associated with a defective interaction of DNAJC12 with tyrosine hydroxylase (TH), the rate limiting enzyme in dopamine synthesis. Here, we report the characterization of TH:DNAJC12 complex ...
ORGANISM(S): Homo sapiens (Human) 
2023-12-01 | PXD045185 | Pride
Tyrosine hydroxylase Hsp40 Dnajc12 Hsp70 Tyrosine hydroxylase deficiency 
TranscriptomicsAnalysis of mRNA abundance in the wild-type or Phd2 knockout carotid body and adrenal medulla of mice
The mRNA abundance in the wild-type or Phd2 knockout carotid body and adrenal medulla of mice was analysed by RNA-Seq. For this purpose, mice with tyrosine hydroxylase-restricted inactivation of Phd2 were generated. For the preparation of a single RNA-Seq library, RNA from 10 carotid bodies or adren...
ORGANISM(S): Mus musculus 
2023-08-14 | E-MTAB-13163 | biostudies-arrayexpress
TranscriptomicsHigh oxygen prevents fetal lethality due to lack of catecholamines
The catecholamine norepinephrine is required for fetal survival, but its essential function is unknown. When catecholamine-deficient [tyrosine hydroxylase (Th) null] mouse fetuses die at E13.5-E14.5, they resemble wild type fetuses exposed to hypoxia. They exhibit bradycardia (28% reduction in hear...
ORGANISM(S): Mus musculus 
2008-06-03 | E-GEOD-10341 | biostudies-arrayexpress
UnknownMyoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Not available
S-EPMC3405253 | biostudies-literature
UnknownConsensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Not available
S-EPMC12603479 | biostudies-literature
UnknownGCH1 Deficiency Activates Brain Innate Immune Response and Impairs Tyrosine Hydroxylase Homeostasis.
Not available
S-EPMC8805627 | biostudies-literature
UnknownMild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Not available
S-EPMC7109519 | biostudies-literature
UnknownTyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient.
Not available
S-EPMC7203656 | biostudies-literature
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