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

• Authors : Kai Hell; Linda Liedgens; Alexandra Stiegler ...

Subjects: 0301 basic medicine; Intermembrane space; Protein Folding

• Source: Redox Biology, Vol 15, Iss C, Pp 363-374 (2018)Repositório Científico de Acesso Aberto de PortugalRepositório Científico de Acesso Aberto de Portugal (RCAAP)instacron:RCAAP

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AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway

• Authors : Catherine Brenner; Kostas Tokatlidis; Nazanine Modjtahedi ...

Subjects: 0301 basic medicine; Apoptosis Inducing Factor/genetics/metabolism; [SDV]Life Sciences [q-bio]

• Source: Biochimica et Biophysica Acta-Molecular Basis of DiseaseBiochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2020, 1866 (6), pp.165746. ⟨10.1016/j.bbadis.2020.165746⟩

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Vps39 Interacts with Tom40 to Establish One of Two Functionally Distinct Vacuole-Mitochondria Contact Sites

• Authors : Florian Fröhlich; Martin van der Laan; Christian Ungermann ...

Subjects: 0301 basic medicine; Saccharomyces cerevisiae Proteins; Translocase of the outer membrane

• Source: Developmental CellDevelopmental Cell, 45(5), 621-636.e7. CELL PRESSGonzález Montoro, A, Auffarth, K, Hönscher, C, Bohnert, M, Becker, T, Warscheid, B, Reggiori, F, van der Laan, M,

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