Patel MS - Search Results

1

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.

Wexler ID, Hemalatha SG, Liu TC, Berry SA, Kerr DS, Patel MS. Wexler ID, et al. Among authors: patel ms. Pediatr Res. 1992 Aug;32(2):169-74. doi: 10.1203/00006450-199208000-00009. Pediatr Res. 1992. PMID: 1508605

2

Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.

Ho L, Wexler ID, Liu TC, Thekkumkara TJ, Patel MS. Ho L, et al. Among authors: patel ms. Proc Natl Acad Sci U S A. 1989 Jul;86(14):5330-4. doi: 10.1073/pnas.86.14.5330. Proc Natl Acad Sci U S A. 1989. PMID: 2748588 Free PMC article.

3

Identification of a cDNA clone for the beta-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex.

Ho L, Javed AA, Pepin RA, Thekkumkara TJ, Raefsky C, Mole JE, Caliendo AM, Kwon MS, Kerr DS, Patel MS. Ho L, et al. Among authors: patel ms. Biochem Biophys Res Commun. 1988 Feb 15;150(3):904-8. doi: 10.1016/0006-291x(88)90714-0. Biochem Biophys Res Commun. 1988. PMID: 2829898

4

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.

Kerr DS, Ho L, Berlin CM, Lanoue KF, Towfighi J, Hoppel CL, Lusk MM, Gondek CM, Patel MS. Kerr DS, et al. Among authors: patel ms. Pediatr Res. 1987 Sep;22(3):312-8. doi: 10.1203/00006450-198709000-00015. Pediatr Res. 1987. PMID: 3116495

5

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.

Kerr DS, Berry SA, Lusk MM, Ho L, Patel MS. Kerr DS, et al. Among authors: patel ms. Pediatr Res. 1988 Jul;24(1):95-100. doi: 10.1203/00006450-198807000-00022. Pediatr Res. 1988. PMID: 3137520

6

Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex.

Thekkumkara TJ, Ho L, Wexler ID, Pons G, Liu TC, Patel MS. Thekkumkara TJ, et al. Among authors: patel ms. FEBS Lett. 1988 Nov 21;240(1-2):45-8. doi: 10.1016/0014-5793(88)80337-5. FEBS Lett. 1988. PMID: 3191998 Free article.

7

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS. Hemalatha SG, et al. Among authors: patel ms. Hum Mol Genet. 1995 Feb;4(2):315-8. doi: 10.1093/hmg/4.2.315. Hum Mol Genet. 1995. PMID: 7757088 No abstract available.

8

Gene regulation and genetic defects in the pyruvate dehydrogenase complex.

Patel MS, Naik S, Wexler ID, Kerr DS. Patel MS, et al. J Nutr. 1995 Jun;125(6 Suppl):1753S-1757S. doi: 10.1093/jn/125.suppl_6.1753S. J Nutr. 1995. PMID: 7782940 Review.

9

Primary amino acid sequence and structure of human pyruvate carboxylase.

Wexler ID, Du Y, Lisgaris MV, Mandal SK, Freytag SO, Yang BS, Liu TC, Kwon M, Patel MS, Kerr DS. Wexler ID, et al. Among authors: patel ms. Biochim Biophys Acta. 1994 Oct 21;1227(1-2):46-52. doi: 10.1016/0925-4439(94)90105-8. Biochim Biophys Acta. 1994. PMID: 7918683

10

Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).

Tripatara A, Kerr DS, Lusk MM, Kolli M, Tan J, Patel MS. Tripatara A, et al. Among authors: patel ms. Hum Mutat. 1996;8(2):180-2. doi: 10.1002/(SICI)1098-1004(1996)8:2<180::AID-HUMU11>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8844217

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