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SLC25A38 congenital sideroblastic anemia:Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

• Authors : Heeney, Matthew M.; Berhe, Simon; Campagna, Dean R.

Subjects: erythropoiesis; genetics; hematopoietic stem cell transplantation

• Source: Heeney , M M , Berhe , S , Campagna , D R , Oved , J H , Kurre , P , Shaw , P J , Teo , J , Shanap , M A , Hassab , H M , Glader , B E , Shah , S , Yoshimi , A , Ameri , A , Antin , J H , Boudreaux ,

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AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.

• Authors : Reinhardt, Camille; ARENA, Giuseppe; Nedara, Kenza

Subjects: Apoptosis Inducing Factor/genetics/metabolism; Cysteine/genetics/metabolism; Disulfides/metabolism

• Source: Biochimica et Biophysica Acta - Molecular Basis of Disease, 1866 (6), 165746 (2020)

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A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

• Authors : Lehmer, Carina; Schludi, Martin H; Ransom, Linnea

Subjects: CHCHD10; amyotrophic lateral sclerosis; genetics

• Source: EMBO Molecular Medicine, 10 (6) (2018-06)

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A single-cysteine mutant and chimeras of essential Leishmania Erv can complement the loss of Erv1 but not of Mia40 in yeast

• Authors : Specht, S; Liedgens, L; Duarte, M ...

Subjects: Animals; Cysteine / genetics; Disease Models

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Targeted disruption of PDE3B, but not PDE3A, protects murine heart from ischemia/reperfusion injury

• Authors : Research Institutes; Yonsei Cardiovascular Research Institute; Youn Wook Chung

Subjects: Animals; Caveolin 3/genetics; Caveolin 3/metabolism

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