Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.

abstract：:The serotonin 2C receptor regulates food uptake, and its activity is regulated by alternative pre-mRNA splicing. Alternative exon skipping is predicted to generate a truncated receptor protein isoform, whose existence was confirmed with a new antiserum. The truncated receptor sequesters the full-length receptor in int...

journal_title：EMBO molecular medicine

authors： Zhang Z,Shen M,Gresch PJ,Ghamari-Langroudi M,Rabchevsky AG,Emeson RB,Stamm S

更新日期：2016-08-01 00:00:00

abstract：:Fetal alcohol spectrum disorder (FASD) is a frequent cause of mental retardation. However, the molecular mechanisms underlying brain development defects induced by maternal alcohol consumption during pregnancy are unclear. We used normal and Hsf2-deficient mice and cell systems to uncover a pivotal role for heat shock...

journal_title：EMBO molecular medicine

authors： El Fatimy R,Miozzo F,Le Mouël A,Abane R,Schwendimann L,Sabéran-Djoneidi D,de Thonel A,Massaoudi I,Paslaru L,Hashimoto-Torii K,Christians E,Rakic P,Gressens P,Mezger V

更新日期：2014-08-01 00:00:00

abstract：:Diabetic nephropathy is the leading cause of end-stage renal disease. Although dysfunction of podocytes, also termed glomerular visceral epithelial cells, is critically associated with diabetic nephropathy, the mechanism underlying podocyte dysfunction still remains obscure. Here, we identify that KDM6A, a histone lys...

journal_title：EMBO molecular medicine

authors： Lin CL,Hsu YC,Huang YT,Shih YH,Wang CJ,Chiang WC,Chang PJ

更新日期：2019-05-01 00:00:00

abstract：:The lack of actionable mutations in patients with non-small cell lung cancer (NSCLC) presents a significant hurdle in the design of targeted therapies for this disease. Here, we identify somatically mutated ABL1 as a genetic dependency that is required to maintain NSCLC cell survival. We demonstrate that NSCLC cells w...

journal_title：EMBO molecular medicine

authors： Testoni E,Stephenson NL,Torres-Ayuso P,Marusiak AA,Trotter EW,Hudson A,Hodgkinson CL,Morrow CJ,Dive C,Brognard J

更新日期：2016-02-01 00:00:00

abstract：:Mitochondrial metabolism and the generation of reactive oxygen species (ROS) contribute to the acquisition of DNA mutations and genomic instability in cancer. How genomic instability influences the metabolic capacity of cancer cells is nevertheless poorly understood. Here, we show that homologous recombination-defecti...

journal_title：EMBO molecular medicine

authors： Lahiguera Á,Hyroššová P,Figueras A,Garzón D,Moreno R,Soto-Cerrato V,McNeish I,Serra V,Lazaro C,Barretina P,Brunet J,Menéndez J,Matias-Guiu X,Vidal A,Villanueva A,Taylor-Harding B,Tanaka H,Orsulic S,Junza A,Yanes O,

更新日期：2020-06-08 00:00:00

abstract：:Gene targeting constitutes a new step in the development of gene therapy for inherited diseases. Although previous studies have shown the feasibility of editing fibroblasts from Fanconi anemia (FA) patients, here we aimed at conducting therapeutic gene editing in clinically relevant cells, such as hematopoietic stem c...

journal_title：EMBO molecular medicine

authors： Diez B,Genovese P,Roman-Rodriguez FJ,Alvarez L,Schiroli G,Ugalde L,Rodriguez-Perales S,Sevilla J,Diaz de Heredia C,Holmes MC,Lombardo A,Naldini L,Bueren JA,Rio P

更新日期：2017-11-01 00:00:00

abstract：:5'AMP-activated kinase (AMPK) constitutes a hub for cellular metabolic and growth control, thus representing an ideal therapeutic target for prostate cancers (PCas) characterized by increased lipogenesis and activation of mTORC1 pathway. However, whether AMPK activation itself is sufficient to block cancer cell growth...

journal_title：EMBO molecular medicine

authors： Zadra G,Photopoulos C,Tyekucheva S,Heidari P,Weng QP,Fedele G,Liu H,Scaglia N,Priolo C,Sicinska E,Mahmood U,Signoretti S,Birnberg N,Loda M

更新日期：2014-04-01 00:00:00

abstract：:There is an urgent need for new tools to combat the ongoing tuberculosis (TB) pandemic. Gene expression profiles based on blood signatures have proved useful in identifying genes that enable classification of TB patients, but have thus far been complex. Using real-time PCR analysis, we evaluated the expression profile...

journal_title：EMBO molecular medicine

authors： Maertzdorf J,McEwen G,Weiner J 3rd,Tian S,Lader E,Schriek U,Mayanja-Kizza H,Ota M,Kenneth J,Kaufmann SH

更新日期：2016-02-01 00:00:00

abstract：:Group B streptococci (GBS) are Gram-positive bacteria that cause infections in utero and in newborns. We recently showed that the GBS pigment is hemolytic and increased pigment production promotes bacterial penetration of human placenta. However, mechanisms utilized by the hemolytic pigment to induce host cell lysis a...

journal_title：EMBO molecular medicine

authors： Whidbey C,Vornhagen J,Gendrin C,Boldenow E,Samson JM,Doering K,Ngo L,Ezekwe EA Jr,Gundlach JH,Elovitz MA,Liggitt D,Duncan JA,Adams Waldorf KM,Rajagopal L

更新日期：2015-04-01 00:00:00

abstract：:Formation of pathogenic antibodies is a major problem in replacement therapies for inherited protein deficiencies. For example, antibodies to coagulation factors ('inhibitors') seriously complicate treatment of haemophilia. While immune tolerance induction (ITI) protocols have been developed, inhibitors against factor...

journal_title：EMBO molecular medicine

authors： Markusic DM,Hoffman BE,Perrin GQ,Nayak S,Wang X,LoDuca PA,High KA,Herzog RW

更新日期：2013-11-01 00:00:00

abstract：:Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable ...

journal_title：EMBO molecular medicine

authors： Dejanovic B,Djémié T,Grünewald N,Suls A,Kress V,Hetsch F,Craiu D,Zemel M,Gormley P,Lal D,EuroEPINOMICS Dravet working group.,Myers CT,Mefford HC,Palotie A,Helbig I,Meier JC,De Jonghe P,Weckhuysen S,Schwarz G

更新日期：2015-12-01 00:00:00

abstract：:Inherited familial Alzheimer's disease (AD) is characterized by small increases in the ratio of Aβ42 versus Aβ40 peptide which is thought to drive the amyloid plaque formation in the brain of these patients. Little is known however whether ageing, the major risk factor for sporadic AD, affects amyloid beta-peptide (Aβ...

journal_title：EMBO molecular medicine

authors： Guix FX,Wahle T,Vennekens K,Snellinx A,Chávez-Gutiérrez L,Ill-Raga G,Ramos-Fernandez E,Guardia-Laguarta C,Lleó A,Arimon M,Berezovska O,Muñoz FJ,Dotti CG,De Strooper B

更新日期：2012-07-01 00:00:00

abstract：:Aging is associated with redox imbalance according to the redox theory of aging. Consistently, a mouse model of premature aging (LmnaG609G/+ ) showed an increased level of mitochondrial reactive oxygen species (ROS) and a reduced basal antioxidant capacity, including loss of the NADPH-coupled glutathione redox system....

journal_title：EMBO molecular medicine

authors： Villa-Bellosta R

更新日期：2020-10-07 00:00:00

abstract：:Genomic data sharing is becoming more important as scientists join forces across borders in biomedical research for the benefit of patients and society. The EU's General Data Protection Regulation (GDPR) helps simplify sharing of such data at the European and international level. However, initial optimism has dried up...

journal_title：EMBO molecular medicine

authors： Molnár-Gábor F,Korbel JO

更新日期：2020-03-06 00:00:00

abstract：:Autologous haematopoietic stem cell transplantation is highly efficient for the treatment of systemic autoimmune diseases, but its consequences for the immune system remain poorly understood. Here, we describe an optimized RNA-based technology for unbiased amplification of T cell receptor beta-chain libraries and use ...

journal_title：EMBO molecular medicine

authors： Mamedov IZ,Britanova OV,Bolotin DA,Chkalina AV,Staroverov DB,Zvyagin IV,Kotlobay AA,Turchaninova MA,Fedorenko DA,Novik AA,Sharonov GV,Lukyanov S,Chudakov DM,Lebedev YB

更新日期：2011-04-01 00:00:00

abstract：:RAD51 recombinase activity plays a critical role for cancer cell proliferation and survival, and often contributes to drug-resistance. Abnormally elevated RAD51 function and hyperactive homologous recombination (HR) rates have been found in a panel of cancers, including breast cancer and chronic myeloid leukaemia (CML...

journal_title：EMBO molecular medicine

authors： Zhu J,Zhou L,Wu G,Konig H,Lin X,Li G,Qiu XL,Chen CF,Hu CM,Goldblatt E,Bhatia R,Chamberlin AR,Chen PL,Lee WH

更新日期：2013-03-01 00:00:00

abstract：:Vascular endothelial growth factor C (VEGF-C) binding to its tyrosine kinase receptor VEGFR-3 drives lymphatic vessel growth during development and in pathological processes. Although the VEGF-C/VEGFR-3 pathway provides a target for treatment of cancer and lymphedema, the physiological functions of VEGF-C in adult vas...

journal_title：EMBO molecular medicine

authors： Nurmi H,Saharinen P,Zarkada G,Zheng W,Robciuc MR,Alitalo K

更新日期：2015-11-01 00:00:00

abstract：:Breast cancer is a molecularly, biologically and clinically heterogeneous group of disorders. Understanding this diversity is essential to improving diagnosis and optimizing treatment. Both genetic and acquired epigenetic abnormalities participate in cancer, but the involvement of the epigenome in breast cancer and it...

journal_title：EMBO molecular medicine

authors： Dedeurwaerder S,Desmedt C,Calonne E,Singhal SK,Haibe-Kains B,Defrance M,Michiels S,Volkmar M,Deplus R,Luciani J,Lallemand F,Larsimont D,Toussaint J,Haussy S,Rothé F,Rouas G,Metzger O,Majjaj S,Saini K,Putmans P,Ham

更新日期：2011-12-01 00:00:00

abstract：:Retinitis pigmentosa, caused predominantly by mutations in photoreceptor genes, currently lacks comprehensive treatment. We discover that retinal microglia contribute non-cell autonomously to rod photoreceptor degeneration by primary phagocytosis of living rods. Using rd10 mice, we found that the initiation of rod deg...

journal_title：EMBO molecular medicine

authors： Zhao L,Zabel MK,Wang X,Ma W,Shah P,Fariss RN,Qian H,Parkhurst CN,Gan WB,Wong WT

更新日期：2015-09-01 00:00:00

abstract：:Senescent cells accumulate in multiple aging-associated diseases, and eliminating these cells has recently emerged as a promising therapeutic approach. Here, we take advantage of the high lysosomal β-galactosidase activity of senescent cells to design a drug delivery system based on the encapsulation of drugs with gal...

journal_title：EMBO molecular medicine

authors： Muñoz-Espín D,Rovira M,Galiana I,Giménez C,Lozano-Torres B,Paez-Ribes M,Llanos S,Chaib S,Muñoz-Martín M,Ucero AC,Garaulet G,Mulero F,Dann SG,VanArsdale T,Shields DJ,Bernardos A,Murguía JR,Martínez-Máñez R,Serrano M

更新日期：2018-09-01 00:00:00

abstract：:Immunotherapeutic approaches are currently the most advanced treatments for Alzheimer's disease (AD). Antibodies against amyloid β-peptide (Aβ) bind to amyloid plaques and induce their clearance by microglia via Fc receptor-mediated phagocytosis. Dysfunctions of microglia may play a pivotal role in AD pathogenesis and...

journal_title：EMBO molecular medicine

authors： Xiang X,Werner G,Bohrmann B,Liesz A,Mazaheri F,Capell A,Feederle R,Knuesel I,Kleinberger G,Haass C

更新日期：2016-09-01 00:00:00

abstract：:Telomerase is expressed in the neonatal brain, in distinct regions of adult brain, and was shown to protect developing neurons from apoptosis. Telomerase reactivation by gene manipulation reverses neurodegeneration in aged telomerase-deficient mice. Hence, we and others hypothesized that increasing telomerase expressi...

journal_title：EMBO molecular medicine

authors： Eitan E,Tichon A,Gazit A,Gitler D,Slavin S,Priel E

更新日期：2012-04-01 00:00:00

abstract：:Human memory B cells and plasma cells represent a rich source of antibodies that have been selected in response to human pathogens. In the last decade, different methods have been developed to interrogate the human memory repertoire and isolate monoclonal antibodies. I will discuss how a target-agnostic approach based...

journal_title：EMBO molecular medicine

authors： Lanzavecchia A

更新日期：2018-03-01 00:00:00

abstract：:Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 muta...

journal_title：EMBO molecular medicine

authors： Inaguma Y,Hamada N,Tabata H,Iwamoto I,Mizuno M,Nishimura YV,Ito H,Morishita R,Suzuki M,Ohno K,Kumagai T,Nagata K

更新日期：2014-03-01 00:00:00

abstract：:Clinical application of lentiviral vector (LV)-based hematopoietic stem and progenitor cells (HSPC) gene therapy is rapidly becoming a reality. Nevertheless, LV-mediated signaling and its potential functional consequences on HSPC biology remain poorly understood. We unravel here a remarkably limited impact of LV on th...

journal_title：EMBO molecular medicine

authors： Piras F,Riba M,Petrillo C,Lazarevic D,Cuccovillo I,Bartolaccini S,Stupka E,Gentner B,Cittaro D,Naldini L,Kajaste-Rudnitski A

更新日期：2017-09-01 00:00:00

abstract：:Highly active antiretroviral therapy (HAART) has improved the outlook for the HIV epidemic, but does not provide a cure. The proposed "shock-and-kill" strategy is directed at inducing latent HIV reservoirs, which may then be purged via boosted immune response or targeting infected cells. We describe five novel compoun...

journal_title：EMBO molecular medicine

authors： Hashemi P,Barreto K,Bernhard W,Lomness A,Honson N,Pfeifer TA,Harrigan PR,Sadowski I

更新日期：2018-02-01 00:00:00

abstract：:The Plasmodium-infected hepatocyte has been considered necessary to prime the immune responses leading to sterile protection after vaccination with attenuated sporozoites. However, it has recently been demonstrated that priming also occurs in the skin. We wished to establish if sterile protection could be obtained in ...

journal_title：EMBO molecular medicine

authors： Obeid M,Franetich JF,Lorthiois A,Gego A,Grüner AC,Tefit M,Boucheix C,Snounou G,Mazier D

更新日期：2013-02-01 00:00:00

abstract：:Metastatic castration-resistant prostate cancer (mCRPC) is a lethal form of treatment-resistant prostate cancer and poses significant therapeutic challenges. Deregulated receptor tyrosine kinase (RTK) signalling mediated by loss of tumour suppressor Sprouty2 (SPRY2) is associated with treatment resistance. Using pre-c...

journal_title：EMBO molecular medicine

authors： Patel R,Fleming J,Mui E,Loveridge C,Repiscak P,Blomme A,Harle V,Salji M,Ahmad I,Teo K,Hamdy FC,Hedley A,van den Broek N,Mackay G,Edwards J,Sansom OJ,Leung HY

更新日期：2018-04-01 00:00:00

abstract：:Diabetes mellitus (DM) is a growing international concern. Considerable mortality and morbidity associated with diabetes mellitus arise predominantly from thrombotic cardiovascular events. Oxidative stress-mediated mitochondrial damage contributes significantly to enhanced thrombosis in DM A basal autophagy process ha...

journal_title：EMBO molecular medicine

authors： Lee SH,Du J,Stitham J,Atteya G,Lee S,Xiang Y,Wang D,Jin Y,Leslie KL,Spollett G,Srivastava A,Mannam P,Ostriker A,Martin KA,Tang WH,Hwa J

更新日期：2016-07-01 00:00:00

abstract：:The nucleoside adenosine is a potent regulator of vascular homeostasis, but it remains unclear how expression or function of the adenosine-metabolizing enzyme adenosine kinase (ADK) and the intracellular adenosine levels influence angiogenesis. We show here that hypoxia lowered the expression of ADK and increased the ...

journal_title：EMBO molecular medicine

authors： Xu Y,Wang Y,Yan S,Zhou Y,Yang Q,Pan Y,Zeng X,An X,Liu Z,Wang L,Xu J,Cao Y,Fulton DJ,Weintraub NL,Bagi Z,Hoda MN,Wang X,Li Q,Hong M,Jiang X,Boison D,Weber C,Wu C,Huo Y

更新日期：2017-09-01 00:00:00