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FLASH GENE

Symbol

PABPN1

contributors: mct/shn - updated : 20-12-2014

HGNC name	poly(A) binding protein, nuclear 1
HGNC id	8565

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OPMD

Susceptibility

Variant & Polymorphism repeat	polyalanine expansion leading to the formation of nuclear aggregates (intranuclear inclusions)

Candidate gene
Marker
Therapy target	anti-aggregation therapy (trehalose), reducing aggregate formation, may prove effective in the treatment of OPMD
	a single-domain intracellular antibody, preventing oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein
	Sir2 and AMPK inhibition as therapeutic strategies for muscle protection in OPMD
	Wild-type PABPN1 over-expression can reduce mutant PABPN1 toxicity in both cell and mouse models of OPMD

ANIMAL & CELL MODELS

	Transgenic miceexpressing high levels of expanded hPABPN1 with a 13-alanine stretch showed an apparent myopathy phenotype, especially in old age
	PABPN1 knockdown makes cells more susceptible to apoptotic stimuli
	transcriptomic analysis revealed a massive gene deregulation in mouse model of OPMD (A17.1), display a significant deregulation of pathways associated with muscle atrophy