Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

(2014) Daniel J. Klionsky et al.   Autophagy

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

(2008) Manfred Kayser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

The RCC1 superfamily: From genes, to function, to disease

(2008) Ouadah Hadjebi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

(2008) Hans Eiberg et al.   HUMAN GENETICS