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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

HX Deng, W Chen, ST Hong, KM Boycott… - Nature, 2011 - nature.com
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by
motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but
about 5–10% are familial. Mutations in superoxide dismutase 1 (SOD1) 1, 2 , TAR DNA- ...
Cited by 2

z~ 4 Hα Emitters in the Great Observatories Origins Deep Survey: Tracing the Dominant Mode for Growth of Galaxies

H Shim, RR Chary, M Dickinson, L Lin… - The Astrophysical …, 2011 - iopscience.iop.org
We present evidence for strong Hα emission in galaxies with spectroscopic redshifts in the range
of 3.8 <z< 5.0 over the Great Observatories Origins Deep Survey fields. Among 74 galaxies detected
in the Spitzer IRAC 3.6 and 4.5 μm bands, more than 70% of the galaxies show clear ...

z~ 4 Halpha Emitters in GOODS: Tracing the Dominant Mode for Growth of Galaxies

[PDF] from arxiv.orgH Shim, RR Chary, M Dickinson, L Lin… - Arxiv preprint arXiv: …, 2011 - arxiv.org
We present evidence for unusually strong Hα emission in galaxies with spectroscopic redshifts
in the range of 3.8 <z< 5.0, over the Great Observatories Origins Deep Survey (GOODS)
fields. Among 74 galaxies detected in the Spitzer IRAC 3.6 and 4.5 µm bands, more than ...
Cited by 1 - Related articles - All 3 versions

[HTML] 2-Hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP+-dependent isocitrate dehydrogenase mutations

[HTML] from plos.orgG Jin, ZJ Reitman, I Spasojevic, I Batinic-Haberle… - PloS one, 2011 - dx.plos.org
We show by coprecipitation that five cancer-derived IDH1 R132 mutants bind IDH1-WT but that
three cancer-derived IDH2 R172 mutants exert minimal binding to IDH2-WT. None of the mutants
dominant-negatively lower isocitrate dehydrogenase activity at physiological (40 µM) ...
Cited by 3 - Related articles - Cached - All 4 versions

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

G Tanackovic, A Ransijn, C Ayuso, S Harper… - The American Journal of …, 2011 - Elsevier
Retinitis pigmentosa (RP) is an inherited form of retinal degeneration that leads to progressive
visual-field constriction and blindness. Although the disease manifests only in the retina, mutations
in ubiquitously expressed genes associated with the tri-snRNP complex of the ...
Cited by 1 - Related articles - All 2 versions

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