Publications:

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High-Resolution Ribosome Profiling Reveals Gene-Specific Details of UGA Re-Coding in Selenoprotein Biosynthesis.

Biomolecules

Bohleber, Simon S; Fradejas-Villar, Noelia N; Zhao, Wenchao W; Reuter, Uschi U; Schweizer, Ulrich U

Publication Date: 2022-10-17

Variant appearance in text: SECISBP2: C691R

PubMed Link: 36291713

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology

Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S

Publication Date: 2021

Variant appearance in text: SECISBP2: 2071T>C; C691R

PubMed Link: 35126314

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• Main text
• fendo-12-803024.pdf

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: C691R

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: C691R

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

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Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Antioxidants & Redox Signaling

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2020-09-01

Variant appearance in text: SECISBP2: C691R

PubMed Link: 32295391

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM

Publication Date: 2020-03-01

Variant appearance in text: SBP2: 2071T>C

PubMed Link: 32084277

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Gained in translation: The power of digging deep into disease models.

The Journal Of Biological Chemistry

Copeland, Paul R PR

Publication Date: 2019-09-27

Variant appearance in text: SECISBP2: C691R

PubMed Link: 31562227

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Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.

The Journal Of Biological Chemistry

Zhao, Wenchao W; Bohleber, Simon S; Schmidt, Henrik H; Seeher, Sandra S; Howard, Michael T MT; Braun, Doreen D; Arndt, Simone S; Reuter, Uschi U; Wende, Hagen H; Birchmeier, Carmen C; Fradejas-Villar, Noelia N; Schweizer, Ulrich U

Publication Date: 2019-09-27

Variant appearance in text: SECISBP2: C691R

PubMed Link: 31350336

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Characterization of the UGA-recoding and SECIS-binding activities of SECIS-binding protein 2.

Rna Biology

Bubenik, Jodi L JL; Miniard, Angela C AC; Driscoll, Donna M DM

Publication Date: 2014

Variant appearance in text: SBP2: C691R

PubMed Link: 25692238

Variant Present in the following documents:

• Main text
• krnb-11-11-996472.pdf

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Synthesis and decoding of selenocysteine and human health.

Croatian Medical Journal

Schmidt, Rachel L RL; Simonović, Miljan M

Publication Date: 2012-12

Variant appearance in text: SBP2: C691R

PubMed Link: 23275319

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• Main text
• CroatMedJ_53_0535.pdf

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The syndromes of reduced sensitivity to thyroid hormone.

Biochimica Et Biophysica Acta

Dumitrescu, Alexandra M AM; Refetoff, Samuel S

Publication Date: 2013-07

Variant appearance in text: SBP2: 2071T>C

PubMed Link: 22986150

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Inherited defects of thyroid hormone metabolism.

Annales D'Endocrinologie

Dumitrescu, A M AM; Refetoff, S S

Publication Date: 2011-04

Variant appearance in text: SBP2: C691R

PubMed Link: 21511232

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Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

The Journal Of Clinical Investigation

Schoenmakers, Erik E; Agostini, Maura M; Mitchell, Catherine C; Schoenmakers, Nadia N; Papp, Laura L; Rajanayagam, Odelia O; Padidela, Raja R; Ceron-Gutierrez, Lourdes L; Doffinger, Rainer R; Prevosto, Claudia C; Luan, Jian'an J; Montano, Sergio S; Lu, Jun J; Castanet, Mireille M; Clemons, Nick N; Groeneveld, Matthijs M; Castets, Perrine P; Karbaschi, Mahsa M; Aitken, Sri S; Dixon, Adrian A; Williams, Jane J; Campi, Irene I; Blount, Margaret M; Burton, Hannah H; Muntoni, Francesco F; O'Donovan, Dominic D; Dean, Andrew A; Warren, Anne A; Brierley, Charlotte C; Baguley, David D; Guicheney, Pascale P; Fitzgerald, Rebecca R; Coles, Alasdair A; Gaston, Hill H; Todd, Pamela P; Holmgren, Arne A; Khanna, Kum Kum KK; Cooke, Marcus M; Semple, Robert R; Halsall, David D; Wareham, Nicholas N; Schwabe, John J; Grasso, Lucia L; Beck-Peccoz, Paolo P; Ogunko, Arthur A; Dattani, Mehul M; Gurnell, Mark M; Chatterjee, Krishna K

Publication Date: 2010-12

Variant appearance in text: SBP2: C691R

PubMed Link: 21084748

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