Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

(2011) C. Kannengiesser et al.   HAEMATOLOGICA

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

(2011) Sarah Ducamp et al.   HUMAN MUTATION

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

(2009) Anke K. Bergmann et al.   JOURNAL OF PEDIATRICS

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

(2009) Duane L Guernsey et al.   NATURE GENETICS

Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment

(2009) Clara Camaschella   SEMINARS IN HEMATOLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL