Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

Esteban C. Dell’Angelica, Vorasuk Shotelersuk, R. Claudio Aguilar et al. · Molecular Cell · 1999 · 670 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

Sirawit Ittisoponpisan, Suhail A. Islam, Tarun Khanna et al. · Journal of Molecular Biology · 2019 · 530 citations · Full text

Life Sciences, Biochemistry, Bioinformatics +14

μ1A‐adaptin‐deficient mice: lethality, loss of AP‐1 binding and rerouting of mannose 6‐phosphate receptors

Christoph Meyer, Daniela Zizioli, Susanne Lausmann et al. · The EMBO Journal · 2000 · 410 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +8

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild et al. · The American Journal of Human Genetics · 2011 · 236 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14