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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

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