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Items: 13

1.
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
Anhar Hassan
Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747
PMCID:
PMC10064912
ArticlePDF–842K
2.
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
Charles J. Billington, Jr, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog
Am J Med Genet A. 2022 Sep; 188(9): 2738–2749. Published online 2022 Jul 7. doi: 10.1002/ajmg.a.62893
PMCID:
PMC9542135
ArticlePDF–2.4M
3.
Benzothiophene Carboxylate Derivatives as Novel Allosteric Inhibitors of Branched-chain α-Ketoacid Dehydrogenase Kinase
Shih-Chia Tso, Wen-Jun Gui, Cheng-Yang Wu, Jacinta L. Chuang, Xiangbing Qi, Kristen J. Skvorak, Kenneth Dorko, Amy L. Wallace, Lorraine K. Morlock, Brendan H. Lee, Susan M. Hutson, Stephen C. Strom, Noelle S. Williams, Uttam K. Tambar, R. Max Wynn, David T. Chuang
J Biol Chem. 2014 Jul 25; 289(30): 20583–20593. Published online 2014 Jun 3. doi: 10.1074/jbc.M114.569251
PMCID:
PMC4110271
ArticlePDF–1.8M
4.
Adipose transplant for inborn errors of branched chain amino acid metabolism in mice
Heather A. Zimmerman, Kristine C. Olson, Gang Chen, Christopher J. Lynch
Mol Genet Metab. Author manuscript; available in PMC 2014 Mar 17.
Published in final edited form as: Mol Genet Metab. 2013 Aug; 109(4): 345–353. Published online 2013 May 30. doi: 10.1016/j.ymgme.2013.05.010
PMCID:
PMC3955948
ArticlePDF–810K
5.
Quantification of branched-chain keto acids in tissue by ultra fast liquid chromatography–mass spectrometry
Kristine C. Olson, Gang Chen, Christopher J. Lynch
Anal Biochem. Author manuscript; available in PMC 2014 Aug 15.
Published in final edited form as: Anal Biochem. 2013 Aug 15; 439(2): 10.1016/j.ab.2013.05.002. Published online 2013 May 14. doi: 10.1016/j.ab.2013.05.002
PMCID:
PMC3887392
ArticlePDF–369K
6.
Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase
Shih-Chia Tso, Xiangbing Qi, Wen-Jun Gui, Jacinta L. Chuang, Lorraine K. Morlock, Amy L. Wallace, Kamran Ahmed, Sunil Laxman, Philippe M. Campeau, Brendan H. Lee, Susan M. Hutson, Benjamin P. Tu, Noelle S. Williams, Uttam K. Tambar, R. Max Wynn, David T. Chuang
Proc Natl Acad Sci U S A. 2013 Jun 11; 110(24): 9728–9733. Published online 2013 May 28. doi: 10.1073/pnas.1303220110
PMCID:
PMC3683707
ArticlePDF–820K
7.
Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models
Haipeng Sun, Gang Lu, Shuxun Ren, Jaunian Chen, Yibin Wang
Pediatr Cardiol. 2011; 32(3): 305–310. Published online 2011 Jan 7. doi: 10.1007/s00246-010-9856-9
PMCID:
PMC3051105
ArticlePDF–581K
8.
Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population
Iris Schrijver, Maigi Külm, Phyllis I. Gardner, Eugene P. Pergament, Morris B. Fiddler
J Mol Diagn. 2007 Apr; 9(2): 228–236. doi: 10.2353/jmoldx.2007.060100
Correction in:
J Mol Diagn. 2008 Jan; 10(1): 109.
PMCID:
PMC1867437
ArticlePDF–721K
9.
Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents
Roger V. Lebo, Lawrence R. Shapiro, Elif Yosunkaya Fenerci, J. M. Hoover, Jacinta L. Chuang, David T. Chuang, David F. Kronn
Am J Hum Genet. 2000 Sep; 67(3): 750–754. Published online 2000 Jul 27. doi: 10.1086/303042
PMCID:
PMC1287534
ArticlePDF–174K
10.
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
J L Chuang, R P Cox, D T Chuang
J Clin Invest. 1997 Aug 1; 100(3): 736–744. doi: 10.1172/JCI119586
PMCID:
PMC508243
SummaryPDF–304K
11.
Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
D J Danner, N Armstrong, S C Heffelfinger, E T Sewell, J H Priest, L J Elsas
J Clin Invest. 1985 Mar; 75(3): 858–860. doi: 10.1172/JCI111783
PMCID:
PMC423615
SummaryPage BrowsePDF–683K
12.
The Saccharomyces cerevisiae PRM1 Homolog in Neurospora crassa Is Involved in Vegetative and Sexual Cell Fusion Events but Also Has Postfertilization Functions
André Fleißner, Spencer Diamond, N. Louise Glass
Genetics. 2009 Feb; 181(2): 497–510. doi: 10.1534/genetics.108.096149
PMCID:
PMC2644943
ArticlePDF–1.5M
13.
Meiotic silencing by unpaired DNA: properties, regulation and suppression.
Patrick K T Shiu, Robert L Metzenberg
Genetics. 2002 Aug; 161(4): 1483–1495. doi: 10.1093/genetics/161.4.1483
PMCID:
PMC1462203
SummaryPDF–1.2M

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