X-linked sideroblastic anemia with ataxia (XLSA/A) is caused by defects of the transporter
ABCB7 and is characterized by mitochondrial iron deposition and excess of protoporphyrin …

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited
sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the …

Proteins with iron–sulfur (Fe–S) clusters participate in multiple metabolic pathways
throughout the cell. The mitochondrial ABC half-transporter Abcb7, which is mutated in X …

Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome
(MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts …

A mitochondrial half-type ATP-binding cassette (ABC) protein, ABC7, plays a role in iron
homeostasis in mitochondria, and defects in human ABC7 were shown to be responsible for …

Refractory anemia with ring sideroblasts (RARS) is characterized by mitochondrial ferritin
(FTMT) accumulation and markedly suppressed expression of the iron transporter ABCB7 …

Abcb10, member 10 of the ABC transporter family, is reportedly a part of a complex in the
mitochondrial inner membrane with mitoferrin-1 (Slc25a37) and ferrochelatase (Fech) and is …

Loss-of-function mutations in the ATP-binding cassette (ABC) transporter of the inner
mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a …

Two brothers with X‐linked ataxia (XLA) were found to have hypochromic red cells and
increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected …

ATP-binding cassette subfamily B member 10 (Abcb10) is a mitochondrial ATP-binding
cassette (ABC) transporter that complexes with mitoferrin1 and ferrochelatase to enhance …