Associated Papers
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.
Bortolozzi M et al.
The Journal of Biological Chemistry, 2010
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Hildebrand MS et al.
Clinical Genetics, 2010
The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.
Spiden SL et al.
Plos Genetics, 2008
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
Schultz JM et al.
The New England Journal of Medicine, 2005
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