15.02.2013 | Gustavo Tiscornia; Erika Lorenzo Vivas; Leslie Matalonga; Ina Berniakovich; Montserrat Barragán Monasterio; Cristina ..., Human Molecular Genetics, 2013

Gaucher's disease (GD) is caused by mutations in the GBA1 gene, which encodes acid-β-glucosidase, an enzyme involved in the degradation of complex sphingolipids. While the non-neuronopathic aspects of the disease can be treated with enzyme replacement therapy (ERT), the early-onset ...

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15.02.2013 | Owen A. Brady; Yanqiu Zheng; Kira Murphy; Marshall Huang; Fenghua Hu, Human Molecular Genetics, 2013

Haploinsufficiency of Progranulin (PGRN), a gene encoding a secreted glycoprotein, is a major cause of frontotemporal lobar degeneration with ubiquitin (FTLD-U) positive inclusions. Single nucleotide polymorphisms in the TMEM106B gene were recently discovered as a risk factor for FTLD-U, ...

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15.02.2013 | Arnaud Tauffenberger; Babykumari P. Chitramuthu; Andrew Bateman; Hugh PJ. Bennett; J. Alex Parker, Human Molecular Genetics, 2013

The DNA/RNA binding proteins TAR DNA-binding protein 43 (TDP-43) and fused-in-sarcoma (FUS) are genetically linked to amyotrophic lateral sclerosis and frontotemporal lobar dementia, while the inappropriate cytoplasmic accumulations of TDP-43 and FUS are observed in a growing number of ...

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15.02.2013 | Zhe Sun; Pengfei Liu; Xueyuan Jia; Marjorie A. Withers; Li Jin; James R. Lupski; Feng Zhang, Human Molecular Genetics, 2013

Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in ‘trans’, i.e. via interchromosomal events, or in ‘cis’, i.e. via intrachromosomal events. However, what molecular mechanisms occur ...

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15.02.2013 | Elena Panizza; Tonino Ercolino; Luigi Mori; Elena Rapizzi; Maurizio Castellano; Giuseppe Opocher; Ileana Ferrero; Ha ..., Human Molecular Genetics, 2013

SDH genes, encoding succinate dehydrogenase, act as tumour suppressor genes, linking mitochondrial dysfunction with tumourigenesis. Heterozygous germline mutations in SDHA, SDHB, SDHC, SDHD and in the assembly factor encoding gene SDHAF2 have all been shown to predispose to heritable ...

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15.02.2013 | Jade Chapman; Elliott Rees; Denise Harold; Dobril Ivanov; Amy Gerrish; Rebecca Sims; Paul Hollingworth; Alexandra St ..., Human Molecular Genetics, 2013

We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). ...

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15.02.2013 | Marc Henrion; Matthew Frampton; Ghislaine Scelo; Mark Purdue; Yuanqing Ye; Peter Broderick; Alastair Ritchie; Richar ..., Human Molecular Genetics, 2013

Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of ...

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15.02.2013 | Anne M. Slavotinek; Pavni Mehrotra; Irina Nazarenko; Paul Ling-Fung Tang; Richard Lao; Don Cameron; Ben Li; Catherin ..., Human Molecular Genetics, 2013

Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a ...

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01.02.2013 | Christine I. Seidl; Lodoe Lama; Kevin Ryan, Nucleic Acids Research, 2013

Synthetic RNA formulations and viral vectors are the two main approaches for delivering small therapeutic RNA to human cells. Here we report findings supporting an alternative strategy in which an endogenous human RNA polymerase (RNAP) is harnessed to make RNA hairpin-containing small RNA ...

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01.02.2013 | Andrew Paul Hutchins; Diego Diez; Yoshiko Takahashi; Shandar Ahmad; Ralf Jauch; Michel Lucien Tremblay; Diego Mirand ..., Nucleic Acids Research, 2013

Transcription factors (TFs) regulate gene expression by binding to short DNA sequence motifs, yet their binding specificities alone cannot explain how certain TFs drive a diversity of biological processes. In order to investigate the factors that control the functions of the pleiotropic TF ...

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