Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The tripeptide thiol glutathione (GSH) is present in the nucleus of plant and animal cells. However, the functions of GSH in the nucleus remain poorly characterised. GSH appears to become sequestered in the nucleus at the early stages of the cell cycle. As part of our search for proteins that may be involved in GSH transport into the nucleus, we studied the functions of the nucleoporin called Alacrima Achalasia aDrenal Insufficiency Neurologic disorder (ALADIN). ALADIN is encoded by the Achalasia-Addisonianism-Alacrimia (AAAS) gene in mammalian cells. Defects in ALADIN promote adrenal disorders and lead to the triple A syndrome in humans. The ALADIN protein localizes to the nuclear envelope in Arabidopsis thaliana and interacts with other components of the nuclear pore complex (NPC). We characterised the functions of the ALADIN protein in an Arabidopsis thaliana T-DNA insertion knockout mutant, which shows slow growth compared to the wild type.
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PMID:Transport of glutathione into the nucleus. 2646 32