PMC Links for Nucleotide (Select 1676439720) - PMC

Select item 64518671.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Jesse Slone, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, Mays Antonine El-Dairi, Dmitry Tchapyjnikov, Laura A Gonzalez-Krellwitz, Elizabeth A. Sellars, Allyn McConkie-Rosell, Laura G. Reinholdt, Taosheng Huang

J Hum Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: J Hum Genet. 2018 Dec; 63(12): 1211–1222. Published online 2018 Sep 25. doi: 10.1038/s10038-018-0515-y

PMCID:: PMC6451867

Abstract Article PDF–3.6M

Select item 58862302.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Yanyan Peng, Deepali N Shinde, C Alexander Valencia, Jun-Song Mo, Jill Rosenfeld, Megan Truitt Cho, Adam Chamberlin, Zhuo Li, Jie Liu, Baoheng Gui, Rachel Brockhage, Alice Basinger, Brenda Alvarez-Leon, Peter Heydemann, Pilar L Magoulas, Andrea M Lewis, Fernando Scaglia, Solange Gril, Shuk Ching Chong, Matthew Bower, Kristin G Monaghan, Rebecca Willaert, Maria-Renee Plona, Rich Dineen, Francisca Milan, George Hoganson, Zoe Powis, Katherine L Helbig, Jennifer Keller-Ramey, Belinda Harris, Laura C Anderson, Torrian Green, Stacey J Sukoff Rizzo, Julie Kaylor, Jiani Chen, Min-Xin Guan, Elizabeth Sellars, Steven P Sparagana, James B Gibson, Laura G Reinholdt, Sha Tang, Taosheng Huang

Hum Mol Genet. 2017 Dec 15; 26(24): 4937–4950. Published online 2017 Oct 5. doi: 10.1093/hmg/ddx377

Correction in:: Hum Mol Genet. 2018 Jun 15; 27(12): 2224.

PMCID:: PMC5886230

Abstract Article PDF–1.6M

Select item 56994833.

Isatin‐induced increase in the affinity of human ferrochelatase and adrenodoxin reductase interaction

Pavel Ershov, Yuri Mezentsev, Andrey Gilep, Sergey Usanov, Olga Buneeva, Alexei Medvedev, Alexis Ivanov

Protein Sci. 2017 Dec; 26(12): 2458–2462. Published online 2017 Oct 9. doi: 10.1002/pro.3300

PMCID:: PMC5699483

Abstract Article PDF–194K

Select item 56301974.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin

Am J Hum Genet. 2017 Oct 5; 101(4): 630–637. Published online 2017 Sep 28. doi: 10.1016/j.ajhg.2017.09.007

PMCID:: PMC5630197

Abstract Article PDF–1.4M

Select item 2821325.

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues.

S B Solish, J Picado-Leonard, Y Morel, R W Kuhn, T K Mohandas, I Hanukoglu, W L Miller

Proc Natl Acad Sci U S A. 1988 Oct; 85(19): 7104–7108. doi: 10.1073/pnas.85.19.7104

PMCID:: PMC282132

Summary Page Browse PDF–1.0M

Select item 549876.

Cloning and sequence of the human adrenodoxin reductase gene.

D Lin, Y F Shi, W L Miller

Proc Natl Acad Sci U S A. 1990 Nov; 87(21): 8516–8520. doi: 10.1073/pnas.87.21.8516

PMCID:: PMC54987

Summary Page Browse PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity