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Items: 1 to 20 of 99

1.

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.

Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.

2.

Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis.

Castle CD, Cassimere EK, Lee J, Denicourt C.

Mol Cell Biol. 2010 Sep;30(18):4404-14. doi: 10.1128/MCB.00358-10. Epub 2010 Jul 20.

3.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PMID:
17431882
4.

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C.

Nat Genet. 2001 Sep;29(1):75-7.

PMID:
11528396
5.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

6.

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.

de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.

Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19.

7.

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A.

J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28.

PMID:
23449687
8.

Nom1 mediates pancreas development by regulating ribosome biogenesis in zebrafish.

Qin W, Chen Z, Zhang Y, Yan R, Yan G, Li S, Zhong H, Lin S.

PLoS One. 2014 Jun 26;9(6):e100796. doi: 10.1371/journal.pone.0100796. eCollection 2014.

9.

Las1 interacts with Grc3 polynucleotide kinase and is required for ribosome synthesis in Saccharomyces cerevisiae.

Castle CD, Sardana R, Dandekar V, Borgianini V, Johnson AW, Denicourt C.

Nucleic Acids Res. 2013 Jan;41(2):1135-50. doi: 10.1093/nar/gks1086. Epub 2012 Nov 21.

10.

Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.

Lin X, Zhang QJ, He J, Lin MT, Murong SX, Wang N, Chen WJ.

J Child Neurol. 2014 Aug;29(8):NP35-9. doi: 10.1177/0883073813497827. Epub 2013 Sep 9.

PMID:
24022109
11.

LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis.

Castle CD, Cassimere EK, Denicourt C.

Mol Biol Cell. 2012 Feb;23(4):716-28. doi: 10.1091/mbc.E11-06-0530. Epub 2011 Dec 21.

12.

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development.

Provost E, Wehner KA, Zhong X, Ashar F, Nguyen E, Green R, Parsons MJ, Leach SD.

Development. 2012 Sep;139(17):3232-41. doi: 10.1242/dev.077107.

13.

A comparative study of nucleostemin family members in zebrafish reveals specific roles in ribosome biogenesis.

Essers PB, Pereboom TC, Goos YJ, Paridaen JT, Macinnes AW.

Dev Biol. 2014 Jan 15;385(2):304-15. doi: 10.1016/j.ydbio.2013.10.029. Epub 2013 Nov 6.

14.

Loc1p is required for efficient assembly and nuclear export of the 60S ribosomal subunit.

Urbinati CR, Gonsalvez GB, Aris JP, Long RM.

Mol Genet Genomics. 2006 Oct;276(4):369-77. Epub 2006 Jul 27.

PMID:
16871394
15.

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.

Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Epub 2016 Feb 24. Review.

PMID:
26922252
16.

Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.

Miller N, Feng Z, Edens BM, Yang B, Shi H, Sze CC, Hong BT, Su SC, Cantu JA, Topczewski J, Crawford TO, Ko CP, Sumner CJ, Ma L, Ma YC.

J Neurosci. 2015 Apr 15;35(15):6038-50. doi: 10.1523/JNEUROSCI.3716-14.2015.

17.

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hübner C, Martini R, Sendtner M.

Hum Mol Genet. 2004 Sep 15;13(18):2031-42. Epub 2004 Jul 21.

PMID:
15269181
18.

Splicing factor 2-associated protein p32 participates in ribosome biogenesis by regulating the binding of Nop52 and fibrillarin to preribosome particles.

Yoshikawa H, Komatsu W, Hayano T, Miura Y, Homma K, Izumikawa K, Ishikawa H, Miyazawa N, Tachikawa H, Yamauchi Y, Isobe T, Takahashi N.

Mol Cell Proteomics. 2011 Aug;10(8):M110.006148. doi: 10.1074/mcp.M110.006148. Epub 2011 May 2.

19.

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I.

Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15.

PMID:
24388491
20.

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.

Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F.

Eur J Paediatr Neurol. 2012 Jan;16(1):90-4. doi: 10.1016/j.ejpn.2011.10.005. Epub 2011 Nov 18. Review.

PMID:
22099258

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