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J. Paul Chapple | doi.page

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J. Paul Chapple

Queen Mary University of London(GB)William Harvey Research Institute(GB)

Publications by Year

Research Areas

Genetic and Kidney Cyst Diseases, Heat shock proteins research, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Endoplasmic Reticulum Stress and Disease

Most-Cited Works

→ Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates(2005)549 cited
→ Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2(2005)445 cited
→ Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy(2005)378 cited
→ The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas(2008)293 cited
→ Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency(2012)261 cited
→ MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family(2009)239 cited

→ The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1(2009)

193 cited

→ Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)(2012)191 cited

→ Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families(2010)178 cited

→ Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response(2020)151 cited