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ProteomicsSIRT1 mediates brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism
Inborn errors of vitamin B12 metabolism (IECM) resulting from impaired methionine synthase (MS, encoded by MTR) activity cause severe cognitive and neurological deficits that are often unresponsive to conventional B12 supplementation. Using a brain-specific Mtr knockout mouse model, we identified th...
ORGANISM(S): Mus musculus (Mouse) 
2026-01-06 | PXD071487 | Pride
Vitamin b12 deficiency Methionine synthase One-carbon metabolism Wnt signaling Inborn errors of cobalamin metabolism Sirt1  neurogenesis Energy metabolism 
GenomicsTHAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development
Mutations in HCFC1 are associated with cblX (MIM309541), an X-linked recessive disorder, characterized by defects in cobalamin metabolism and other developmental defects. HCFC1 is a transcriptional co-regulator, which interacts with transcription factors to regulate the expression of a myriad of gen...
EGAS00001002201 | EGA
Genomicsena-DATASET-MCGILL-EDCC-12-01-2017-18:11:29:150-25 - samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold deplet...
EGAD00001003142 | EGA
UnknownMultiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
Not available
S-EPMC10794925 | biostudies-literature
GenomicsSIRT1 is a therapeutic target of brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism
SIRT1 is a therapeutic target of brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism
PRJNA1368604 | ENA
UnknownInherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR.
Not available
S-EPMC6125644 | biostudies-literature
TranscriptomicsInherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of HuR
Molecular mechanisms underlying the neurological disorders of inherited diseases of cobalamin metabolism remain obscure. Transcriptome data from a cell model with impaired cobalamin metabolism implicated dysregulated RNA metabolism and endoplasmic reticulum stress. Evidence from the cell model, Cd32...
ORGANISM(S): Mus musculus 
2018-07-20 | GSE103417 | GEO
UnknownDisorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.
Not available
S-EPMC11795796 | biostudies-literature
UnknownFrom structural biology to designing therapy for inborn errors of metabolism.
Not available
S-EPMC4920855 | biostudies-literature
GenomicsSIRT1 is a therapeutic target of brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism
Inborn errors of vitamin B12 metabolism (IECM) with impaired methionine synthase (MS) activity (encoded by MTR), manifest severe cognitive and neurological symptoms unresponsive to B12 therapy. We explored the effects of Mtr brain-selective deletion at postnatal stage in mouse, identified histone de...
ORGANISM(S): Mus musculus 
2026-04-01 | GSE311053 | GEO
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