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Traffic (Copenhagen, Denmark)|February 1, 2006
Recycling to the plasma membrane is delayed in EHD1 knockout miceDebora Rapaport, Wojtek Auerbach, Naava Naslavsky, et al.The Biochemical Journal|July 16, 2011
EHD2 mediates trafficking from the plasma membrane by modulating Rac1 activitySigi Benjamin, Hilla Weidberg, Debora Rapaport, et al.American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.Pageof 2