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Items: 11

1.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

2.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

3.

Cysteine 42 is important for maintaining an integral active site for O-acetylserine sulfhydrylase resulting in the stabilization of the alpha-aminoacrylate intermediate.

Tai CH, Yoon MY, Kim SK, Rege VD, Nalabolu SR, Kredich NM, Schnackerz KD, Cook PF.

Biochemistry. 1998 Jul 28;37(30):10597-604.

PMID:
9692949
4.

FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.

Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA.

Nat Genet. 1998 Jan;18(1):84-7.

PMID:
9425908
5.

Expression, purification, and characterization of the recombinant NAD-malic enzyme from Ascaris suum.

Chooback L, Karsten WE, Kulkarni G, Nalabolu SR, Harris BG, Cook PF.

Protein Expr Purif. 1997 Jun;10(1):51-4.

PMID:
9179290
6.

A transcription map of the major histocompatibility complex (MHC) class I region.

Gruen JR, Nalabolu SR, Chu TW, Bowlus C, Fan WF, Goei VL, Wei H, Sivakamasundari R, Liu Y, Xu HX, Parimoo S, Nallur G, Ajioka R, Shukla H, Bray-Ward P, Pan J, Weissman SM.

Genomics. 1996 Aug 15;36(1):70-85.

PMID:
8812418
7.

Genes in a 220-kb region spanning the TNF cluster in human MHC.

Nalabolu SR, Shukla H, Nallur G, Parimoo S, Weissman SM.

Genomics. 1996 Jan 15;31(2):215-22.

PMID:
8824804
8.

Acid-base chemical mechanism of O-acetylserine sulfhydrylases-A and -B from pH studies.

Tai CH, Nalabolu SR, Simmons JW 3rd, Jacobson TM, Cook PF.

Biochemistry. 1995 Sep 26;34(38):12311-22.

PMID:
7547974
9.
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11.

Mechanism of O-acetylserine sulfhydrylase fromSalmonella typhimurium LT-2.

Nalabolu SR, Tai CH, Schnackerz KD, Cook PF.

Amino Acids. 1992 Feb;2(1-2):119-25. doi: 10.1007/BF00806082.

PMID:
24194279

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