The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability

Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

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Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Kari Casas, Emebet Mengesha et al. · The American Journal of Human Genetics · 2004 · 314 citations · Full text

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C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 293 citations · Full text

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Regulation by Heme of Mitochondrial Protein Transport Through a Conserved Amino Acid Motif

Julia Tait Lathrop, Michael P. Timko · Science · 1993 · 290 citations

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

Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna et al. · Nature Genetics · 2009 · 247 citations

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