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Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells

We demonstrate here that patient dermal fibroblast cells have dysmorphic nuclei containing numerous blebs and lobulations, which progressively accumulate as cells age in culture. The lamin A/C organisation is altered, showing intranuclear and nuclear...

Authors: Kandert S, Lüke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, Munck M, Wehnert M, Müller CR, Zhou Z,...

Acid-sensing ion channel-1 contributes to axonal degeneration in autoimmune inflammation of the central nervous system

Multiple sclerosis is a neuroinflammatory disease associated with axonal degeneration. The neuronally expressed, proton-gated acid-sensing ion channel-1 (ASIC1) is permeable to Na(+) and Ca(2+), and excessive accumulation of these ions is associated...

Authors: Friese MA, Craner MJ, Etzensperger R, Vergo S, Wemmie JA, Welsh MJ, Vincent A, Fugger L

Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

Context: Mandibuloacral dysplasia type A [MADA; OMIM#248370] is a rare progeroid syndrome characterised by dysmorphic craniofacial and skeletal features, lipodystrophy and metabolic complications. Most of Italian patients carry the same homozygous...

Authors: Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM,...

Identification of a novel p53-dependent activation pathway of STAT1 by antitumour genotoxic agents

Chemotherapeutic drugs such as fludarabine(*), doxorubicin or cisplatin are very potent activators of the anti-oncogene p53. Convergent studies suggest that p53 and STAT1 (signal transducer and activator of transcription 1) cooperate in the induction...

Authors: Youlyouz-Marfak I, Gachard N, Le Clorennec C, Najjar I, Baran-Marszak F, Reminieras L, May E,...

5' Trans-Splicing Repair of the PLEC1 Gene

The efficient treatment of hereditary disorders, especially of those caused by dominant-negative mutations still remains an obstacle to be overcome. Allele specificity is a critical aspect that must be addressed by silencing therapies such as small...

Authors: Wally V, Klausegger A, Koller U, Lochmueller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW

Activation of double-stranded RNA-activated protein kinase by mild impairment of oxidative metabolism in neurons

Thiamine (vitamin B1) deficiency (TD) causes mild and chronic impairment of oxidative metabolism and induces neuronal death in specific brain regions. The mechanisms underlying TD-induced cell death, however, remain unclear. The double-stranded...

Authors: Wang X, Fan Z, Wang B, Luo J, Ke ZJ

Regulating gene expression in human leukemia cells using light-activated oligodeoxynucleotides

Light-activated antisense oligodeoxynucleotides (asODNs) were developed to control the degradation of target mRNA in living cells by RNase H. A 20-mer asODN previously shown to target c-myb, a hematopoietic transcription factor, was covalently...

Authors: Tang X, Swaminathan J, Gewirtz AM, Dmochowski IJ

Murine models of chronic lymphocytic leukaemia: role of microRNA-16 in the New Zealand Black mouse model

Mouse models are valuable tools in the study of human chronic lymphocytic leukaemia (CLL). The New Zealand Black (NZB) strain is a naturally occurring model of late-onset CLL characterized by B-cell hyperproliferation and autoimmunity early in life,...

Authors: Scaglione BJ, Salerno E, Balan M, Coffman F, Landgraf P, Abbasi F, Kotenko S, Marti GE, Raveche ES

Involvement of Rab13 and JRAB/MICAL-L2 in epithelial cell scattering

Epithelial cell scattering recapitulates the first steps of carcinoma invasion/metastasis. While the balance between cell-cell adhesive activity and cell motility ultimately determines this process, its molecular mechanisms remain unclear. Adherence...

Authors: Kanda I, Nishimura N, Nakatsuji H, Yamamura R, Nakanishi H, Sasaki T

Differential expression of D-type cyclins in HaCaT keratinocytes and in psoriasis

In this study, we show that the G(0)-G(1)/S phase of HaCaT keratinocyte cell cycle is characterized by D1-type cyclin expression, whereas during the repeated rapid turnover of highly proliferating cells, the expression of cyclins D2 and D3 dominates....

Authors: Belso N, Szell M, Pivarcsi A, Kis K, Kormos B, Kenderessy AS, Dobozy A, Kemeny L, Bata-Csorgo Z

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