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ProteomicsTGM1 interaction partners identification reveals possible TGM1 posttranslational modifiers
TGM1 is an enzyme that cross-links structural proteins in the uppermost granular layer of the epidermis to form cornified envelopes. Cornified envelopes ensure functional stratum corneum and epidermal barrier formation. It has been suggested that the activity of TGM1 is regulated on a posttranslatio...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD045105 | Pride
Cell model Virotrap Skin Transglutamination Interaction partners Human Tgm1 
TranscriptomicsThe effects of TGM1 Mutations in HEK293T and HaCaT cells
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare inherited skin disorders characterized by remarkable hyperkeratosis. Transglutaminase 1 (TGM1) mutations have been reported to be involved in four different phenotypes of ARCI, including lamellar ichthyosis (LI), non-bullous congeni...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-70859 | biostudies-arrayexpress
GenomicsA cellular disease model towards gene therapy of TGM1-dependent Lamellar Ichthyosis
A cellular disease model towards gene therapy of TGM1-dependent Lamellar Ichthyosis
PRJNA1116216 | ENA
TranscriptomicsThe effects of TGM1 Mutations in HEK293T and HaCaT cells
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare inherited skin disorders characterized by remarkable hyperkeratosis. Transglutaminase 1 (TGM1) mutations have been reported to be involved in four different phenotypes of ARCI, including lamellar ichthyosis (LI), non-bullous congeni...
ORGANISM(S): Homo sapiens 
2015-12-31 | GSE70859 | GEO
TranscriptomicsA cellular disease model towards gene therapy of TGM1-dependent Lamellar Ichthyosis
Lamellar Ichthyosis (LI) is a chronic disease, mostly caused by mutations in TGM1 gene, marked by impaired skin barrier formation. No definitive therapies are available and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopatholog...
ORGANISM(S): Homo sapiens 
2024-07-29 | GSE268321 | GEO
ProteomicsProteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1
Gaucher disease (GD) is caused by the defective activity of acid beta-glucosidase (GCase) which results from mutations in GBA1. Neurological forms of GD (nGD) can be generated in mice by intra-peritoneal injection of conduritol B-epoxide (CBE) which irreversibly inhibits GCase. Using this approach, ...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-07-12 | MSV000092415 | MassIVE
UnknownMultiple local and recent founder effects of TGM1 in Spanish families.
Not available
S-EPMC3325222 | biostudies-literature
UnknownA cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis.
Not available
S-EPMC11372595 | biostudies-literature
UnknownCollodion Baby with TGM1 gene mutation.
Not available
S-EPMC4590349 | biostudies-literature
UnknownNovel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Not available
S-EPMC5090260 | biostudies-literature
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