PMC Links for Protein (Select 21361368) - PMC

Select item 45649901.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Am J Hum Genet. 2015 Sep 3; 97(3): 483–492. Published online 2015 Aug 27. doi: 10.1016/j.ajhg.2015.08.001

PMCID:: PMC4564990

Abstract Article PDF–2.1M

Select item 13777692.

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

M Seri, R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, V B Morra, G De Michele, M Lerone, M Silengo, I Pela, C Borrone, G Romeo, M Devoto

Am J Hum Genet. 1999 Feb; 64(2): 586–593. doi: 10.1086/302241

PMCID:: PMC1377769

Summary PDF–241K

Select item 66896803.

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

Ann Clin Transl Neurol. 2019 Aug; 6(8): 1533–1540. Published online 2019 Jul 19. doi: 10.1002/acn3.50821

PMCID:: PMC6689680

Abstract Article PDF–1.2M

Select item 49305584.

Proteomic profiling of cellular steatosis with concomitant oxidative stress in vitro

Khalida Ann Lockman, Varanand Htun, Rohit Sinha, Philipp Treskes, Leonard J. Nelson, Sarah F. Martin, Sophie M. Rogers, Thierry Le Bihan, Peter C. Hayes, John N. Plevris

Lipids Health Dis. 2016; 15: 114. Published online 2016 Jul 2. doi: 10.1186/s12944-016-0283-7

PMCID:: PMC4930558

Abstract Article PDF–781K

Select item 41132725.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Mark T Handley, André Mégarbané, Alison M Meynert, Stephen Brown, Elisabeth Freyer, Martin S Taylor, Ian J Jackson, Irene A Aligianis

Mol Genet Genomic Med. 2014 Jul; 2(4): 319–325. Published online 2014 Mar 11. doi: 10.1002/mgg3.70

PMCID:: PMC4113272

Abstract Article PDF–824K

Select item 33566956.

Human Aldehyde Dehydrogenase Genes: Alternatively-Spliced Transcriptional Variants and Their Suggested Nomenclature

William J. Black, Dimitrios Stagos, Satori A. Marchitti, Daniel W. Nebert, Keith F. Tipton, Amos Bairoch, Vasilis Vasiliou

Pharmacogenet Genomics. Author manuscript; available in PMC 2012 May 20.

Published in final edited form as: Pharmacogenet Genomics. 2009 Nov; 19(11): 893–902. doi: 10.1097/FPC.0b013e3283329023

PMCID:: PMC3356695

Abstract Article PDF–619K

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