15.02.2012 | Flamein, Florence; Riffault, Laure; Muselet-Charlier, Céline; Pernelle, Julie; Feldmann, Delphine; Jonard, Laurence; ..., Human Molecular Genetics, 2012

ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung ...

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15.02.2012 | Jonquoy, Aurélie; Mugniery, Emilie; Benoist-Lasselin, Catherine; Kaci, Nabil; Le Corre, Laurent; Barbault, Florent; ..., Human Molecular Genetics, 2012

Activating germline fibroblast growth factor receptor 3 (FGFR3) mutations cause achondroplasia (ACH), the most common form of human dwarfism and a spectrum of skeletal dysplasias. FGFR3 is a tyrosine kinase receptor and constitutive FGFR3 activation impairs endochondral ossification and ...

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15.02.2012 | Douni, Eleni; Rinotas, Vagelis; Makrinou, Eleni; Zwerina, Jochen; Penninger, Josef M.; Eliopoulos, Elias; Schett, Ge ..., Human Molecular Genetics, 2012

Receptor activator of nuclear factor-B ligand (RANKL), a trimeric tumor necrosis factor (TNF) superfamily member, is the central mediator of osteoclast formation and bone resorption. Functional mutations in RANKL lead to human autosomal recessive osteopetrosis (ARO), whereas RANKL ...

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01.02.2012 | Tomás-Zapico, Cristina; Díez-Zaera, María; Ferrer, Isidre; Gómez-Ramos, Pilar; Morán, María A.; Miras-Portugal, M. T ..., Human Molecular Genetics, 2012

Huntington's disease (HD) is the most common of nine inherited neurological disorders caused by expanded polyglutamine (polyQ) sequences which confer propensity to self-aggregate and toxicity to their corresponding mutant proteins. It has been postulated that polyQ expression compromises the ...

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01.02.2012 | Guibinga, Ghiabe-Henri; Hrustanovic, Gorjan; Bouic, Kathryn; Jinnah, Hyder A.; Friedmann, Theodore, Human Molecular Genetics, 2012

Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine–guanine phosphoribosyltransferase (HPRT) cause the intractable neurodevelopmental Lesch–Nyhan disease (LND) associated with aberrant development of brain dopamine pathways. In the current study, we have identified an ...

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01.02.2012 | Hahn, Michael A.; Dickson, Kristie-Ann; Jackson, Stuart; Clarkson, Adele; Gill, Anthony J.; Marsh, Deborah J., Human Molecular Genetics, 2012

Monoubiquitination of histone H2B is a dynamic post-translational histone modification associated with transcriptional elongation and the DNA damage response. To date, dysregulation of histone monoubiquitination has not been linked to pathogenic mutations in genes encoding proteins, or ...

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01.02.2012 | Ito, Daisuke; Yagi, Takuya; Ikawa, Masahito; Suzuki, Norihiro, Human Molecular Genetics, 2012

Gain-of-toxic mutations in the N-glycosylation motif of the seipin/BSCL2 gene (namely, the N88S and S90L mutations) cause autosomal dominant motor neuron diseases, termed ‘seipinopathy’. Expressed mutant seipin is improperly folded and accumulates in the endoplasmic reticulum (ER), leading ...

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01.02.2012 | Soldà, Giulia; Robusto, Michela; Primignani, Paola; Castorina, Pierangela; Benzoni, Elena; Cesarani, Antonio; Ambros ..., Human Molecular Genetics, 2012

The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominant non-syndromic sensorineural hearing loss ...

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01.02.2012 | Gómez-Suaga, Patricia; Luzón-Toro, Berta; Churamani, Dev; Zhang, Ling; Bloor-Young, Duncan; Patel, Sandip; Woodman, ..., Human Molecular Genetics, 2012

Mutations in the leucine-rich repeat kinase-2 (LRRK2) gene cause late-onset Parkinson’s disease, but its physiological function has remained largely unknown. Here we report that LRRK2 activates a calcium-dependent protein kinase kinase-β (CaMKK-β)/adenosine monophosphate (AMP)-activated ...

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01.02.2012 | Wang, Le; Zou, Junhuang; Shen, Zuolian; Song, E.; Yang, Jun, Human Molecular Genetics, 2012

Whirlin mutations cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31. Its protein recruits other USH2 causative proteins to form a complex at the periciliary membrane complex in photoreceptors and the ankle link of the stereocilia ...

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