Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

ABCB6 Mutations Cause Ocular Coloboma

(2012) Lejing Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

ATP-dependent Mitochondrial Porphyrin Importer ABCB6 Protects against Phenylhydrazine Toxicity

(2012) Dagny L. Ulrich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to aSLC2A1Mutation

(2012) Waleed M. Bawazir et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

(2012) Virginie Helias et al.   NATURE GENETICS

Crystal structure of a heterodimeric ABC transporter in its inward-facing conformation

(2012) Michael Hohl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Shifting the Paradigm: The Putative Mitochondrial Protein ABCB6 Resides in the Lysosomes of Cells and in the Plasma Membrane of Erythrocytes

(2012) Katalin Kiss et al.   PLoS One

A Novel Flow Cytometric HTS Assay Reveals Functional Modulators of ATP Binding Cassette Transporter ABCB6

(2012) Kishore Polireddy et al.   PLoS One

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

(2011) J. F. Flatt et al.   BLOOD

Conserved Intramolecular Disulfide Bond Is Critical to Trafficking and Fate of ATP-binding Cassette (ABC) Transporters ABCB6 and Sulfonylurea Receptor 1 (SUR1)/ABCC8

(2011) Yu Fukuda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells

(2010) I. Andolfo et al.   HAEMATOLOGICA

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

(2010) Corinne Bareil et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes

(2009) Andrew K. Stewart et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Mitochondrial ABC proteins in health and disease

(2009) Ariane Zutz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Molecular models of the open and closed states of the whole human CFTR protein

(2009) Jean-Paul Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation

(2009) A. Bogdanova et al.   HAEMATOLOGICA

Structure of P-Glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding

(2009) S. G. Aller et al.   SCIENCE

Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus

(2008) Masashi Tsuchida et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

(2008) L. J. Bruce et al.   BLOOD

Molecular modeling of the human multidrug resistance protein 1 (MRP1/ABCC1)

(2007) Marianne K. DeGorter et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS