PMC Links for Nucleotide (Select 1675178257) - PMC

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Items: 3

Select item 43392021.

Metabolic and Chaperone Gene Loss Marks the Origin of Animals: Evidence for Hsp104 and Hsp78 Chaperones Sharing Mitochondrial Enzymes as Clients

Albert J. Erives, Jan S. Fassler

PLoS One. 2015; 10(2): e0117192. Published online 2015 Feb 24. doi: 10.1371/journal.pone.0117192

PMCID:: PMC4339202

Abstract Article PDF–2.0M

Select item 43202602.

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers

Am J Hum Genet. 2015 Feb 5; 96(2): 245–257. doi: 10.1016/j.ajhg.2014.12.013

PMCID:: PMC4320260

Abstract Article PDF–1.3M

Select item 43202543.

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Carol Saunders, Laurie Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Ostergaard

Am J Hum Genet. 2015 Feb 5; 96(2): 258–265. doi: 10.1016/j.ajhg.2014.12.020