September 2008 December 2008

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September 2008 - December 2008


Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain.
Mol Genet Metab. 2008 Sep-Oct;95(1-2):81-95.

Buccafusca R, Venditti CP, Kenyon LC, Johanson RA, VanBockstaele E, Ren J, Pagliardini S, Minarcik J, Golden JA, Coady MJ, Greer JJ, Berry GT
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA.


Tuberous sclerosis complex proteins control axon formation.
Genes Dev. 2008 Sep 15;22(18):2485-95.

Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X
The F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.


Deletion of Trpm7 disrupts embryonic development and thymopoiesis without altering Mg2+ homeostasis.
Science. 2008 Oct 31;322(5902):756-60.

Jin J, Desai BN, Navarro B, Donovan A, Andrews NC, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.


Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis.
J Exp Med. 2008 Nov 24;205(12):2693-7.

Notarangelo LD, Pessach I
Division of Immunology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.


Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Am J Hum Genet. 2008 Dec;83(6):769-80.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH
Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


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