SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.

abstract：:There is a widespread agreement from patient and professional organisations alike that the safety of stem cell therapeutics is of paramount importance, particularly for ex vivo autologous gene therapy. Yet current technology makes it difficult to thoroughly evaluate the behaviour of genetically corrected stem cells be...

journal_title：EMBO molecular medicine

authors： Droz-Georget Lathion S,Rochat A,Knott G,Recchia A,Martinet D,Benmohammed S,Grasset N,Zaffalon A,Besuchet Schmutz N,Savioz-Dayer E,Beckmann JS,Rougemont J,Mavilio F,Barrandon Y

更新日期：2015-04-01 00:00:00

abstract：:Systemic toxicities have severely limited the clinical application of tumor necrosis factor (TNF) as an anticancer agent. Activity-on-Target cytokines (AcTakines) are a novel class of immunocytokines with improved therapeutic index. A TNF-based AcTakine targeted to CD13 enables selective activation of the tumor neovas...

journal_title：EMBO molecular medicine

authors： Huyghe L,Van Parys A,Cauwels A,Van Lint S,De Munter S,Bultinck J,Zabeau L,Hostens J,Goethals A,Vanderroost N,Verhee A,Uzé G,Kley N,Peelman F,Vandekerckhove B,Brouckaert P,Tavernier J

更新日期：2020-02-07 00:00:00

abstract：:Cannabis abuse during adolescence confers an increased risk for developing later in life cognitive deficits reminiscent of those observed in schizophrenia, suggesting common pathological mechanisms that remain poorly characterized. In line with previous findings that revealed a role of 5-HT6 receptor-operated mTOR act...

journal_title：EMBO molecular medicine

authors： Berthoux C,Hamieh AM,Rogliardo A,Doucet EL,Coudert C,Ango F,Grychowska K,Chaumont-Dubel S,Zajdel P,Maldonado R,Bockaert J,Marin P,Bécamel C

更新日期：2020-05-08 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：:Although remnant cardiomyocytes (CMs) possess a certain degree of proliferative ability, efficiency is too low for cardiac regeneration after injury. In this study, we identified a distinct stage within the initiation phase of CM reprogramming before the MET process, and microarray analysis revealed the strong up-regu...

journal_title：EMBO molecular medicine

authors： Cheng YY,Yan YT,Lundy DJ,Lo AH,Wang YP,Ruan SC,Lin PJ,Hsieh PC

更新日期：2017-02-01 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：:Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms r...

journal_title：EMBO molecular medicine

authors： Bosakova M,Abraham SP,Nita A,Hruba E,Buchtova M,Taylor SP,Duran I,Martin J,Svozilova K,Barta T,Varecha M,Balek L,Kohoutek J,Radaszkiewicz T,Pusapati GV,Bryja V,Rush ET,Thiffault I,Nickerson DA,Bamshad MJ,Universit

更新日期：2020-11-06 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：: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：:Mitochondrial disorders (MDs) are inherited multi-organ diseases with variable phenotypes. Inclusion body myositis (IBM), a sporadic inflammatory muscle disease, also shows mitochondrial dysfunction. We investigated whether primary and secondary MDs modify metabolism to reveal pathogenic pathways and biomarkers. We in...

journal_title：EMBO molecular medicine

authors： Buzkova J,Nikkanen J,Ahola S,Hakonen AH,Sevastianova K,Hovinen T,Yki-Järvinen H,Pietiläinen KH,Lönnqvist T,Velagapudi V,Carroll CJ,Suomalainen A

更新日期：2018-12-01 00:00:00

abstract：:Prevalence of type 2 diabetes (T2D) and obesity is increasing worldwide. Currently available therapies are not suited for all patients in the heterogeneous obese/T2D population, hence the need for novel treatments. Fibroblast growth factor 21 (FGF21) is considered a promising therapeutic agent for T2D/obesity. Native ...

journal_title：EMBO molecular medicine

authors： Jimenez V,Jambrina C,Casana E,Sacristan V,Muñoz S,Darriba S,Rodó J,Mallol C,Garcia M,León X,Marcó S,Ribera A,Elias I,Casellas A,Grass I,Elias G,Ferré T,Motas S,Franckhauser S,Mulero F,Navarro M,Haurigot V,Rube

更新日期：2018-08-01 00:00:00

abstract：:The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD-EDS caused by two different mut...

journal_title：EMBO molecular medicine

authors： Bin BH,Hojyo S,Hosaka T,Bhin J,Kano H,Miyai T,Ikeda M,Kimura-Someya T,Shirouzu M,Cho EG,Fukue K,Kambe T,Ohashi W,Kim KH,Seo J,Choi DH,Nam YJ,Hwang D,Fukunaka A,Fujitani Y,Yokoyama S,Superti-Furga A,Ikegawa S,

更新日期：2014-08-01 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：:Human respiratory syncytial virus (hRSV) and human metapneumovirus (hMPV), two members of the Pneumoviridae family, account for the majority of severe lower respiratory tract infections worldwide in very young children. They are also a frequent cause of morbidity and mortality in the elderly and immunocompromised adul...

journal_title：EMBO molecular medicine

authors： Olmedillas E,Cano O,Martínez I,Luque D,Terrón MC,McLellan JS,Melero JA,Más V

更新日期：2018-02-01 00:00:00

abstract：:Resistance to tamoxifen is a clinically major challenge in breast cancer treatment. Although downregulation of estrogen receptor-alpha (ERα) is the dominant mechanism of tamoxifen resistance, the reason for ERα decrease during tamoxifen therapy remains elusive. Herein, we reported that Spalt-like transcription factor ...

journal_title：EMBO molecular medicine

authors： Ye L,Lin C,Wang X,Li Q,Li Y,Wang M,Zhao Z,Wu X,Shi D,Xiao Y,Ren L,Jian Y,Yang M,Ou R,Deng G,Ouyang Y,Chen X,Li J,Song L

更新日期：2019-12-01 00:00:00

abstract：:Heart failure entails the inability of the heart to pump blood to vital organs. One of the main risk factors for heart failure is the development of pathological hypertrophy. In this issue of EMBO Molecular Medicine, Li and coworkers show that NCoR1, a co-repressor of transcription factors, inhibits the transcriptiona...

journal_title：EMBO molecular medicine

authors： Grund A,Heineke J

更新日期：2019-11-07 00:00:00

abstract：:Baricitinib is an oral Janus kinase (JAK)1/JAK2 inhibitor approved for the treatment of rheumatoid arthritis (RA) that was independently predicted, using artificial intelligence (AI) algorithms, to be useful for COVID-19 infection via proposed anti-cytokine effects and as an inhibitor of host cell viral propagation. W...

journal_title：EMBO molecular medicine

authors： Stebbing J,Krishnan V,de Bono S,Ottaviani S,Casalini G,Richardson PJ,Monteil V,Lauschke VM,Mirazimi A,Youhanna S,Tan YJ,Baldanti F,Sarasini A,Terres JAR,Nickoloff BJ,Higgs RE,Rocha G,Byers NL,Schlichting DE,Nirula A

更新日期：2020-08-07 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：:The angiopoietin (Ang)-Tie pathway has been intensely pursued as candidate second-generation anti-angiogenic target. While much of the translational work has focused on the ligand Ang2, the clinical efficacy of Ang2-targeting drugs is limited and failed to improve patient survival. In turn, the orphan receptor Tie1 re...

journal_title：EMBO molecular medicine

authors： Singhal M,Gengenbacher N,La Porta S,Gehrs S,Shi J,Kamiyama M,Bodenmiller DM,Fischl A,Schieb B,Besemfelder E,Chintharlapalli S,Augustin HG

更新日期：2020-06-08 00:00:00

abstract：:Patients affected by mitochondrial OXPHOS disorders are still faced with a grim lack of therapeutic options. In this Closeup, Carlos Moraes revisits the recent data by Giovanni Manfredi on PKA's functions in the mitochondria and now its modulation can improve respiration and ATP production in COX-defective cells. ...

journal_title：EMBO molecular medicine

authors： Moraes CT

更新日期：2009-11-01 00:00:00

abstract：:Brain metastasis of breast cancer profoundly affects the cognitive and sensory functions as well as morbidity of patients, and the 1 year survival rate among these patients remains less than 20%. However, the pathological mechanism of brain metastasis is as yet poorly understood. In this report, we found that metastat...

journal_title：EMBO molecular medicine

authors： Xing F,Kobayashi A,Okuda H,Watabe M,Pai SK,Pandey PR,Hirota S,Wilber A,Mo YY,Moore BE,Liu W,Fukuda K,Iiizumi M,Sharma S,Liu Y,Wu K,Peralta E,Watabe K

更新日期：2013-03-01 00:00:00

abstract：:The prostate-specific membrane antigen (PSMA) has been demonstrated in numerous studies to be expressed specifically on prostate carcinoma cells and on the neovasculature of several other cancer entities. However, the simultaneous expression of PSMA on both, tumor cells as well as tumor vessels remains unclear, even i...

journal_title：EMBO molecular medicine

authors： Zekri L,Vogt F,Osburg L,Müller S,Kauer J,Manz T,Pflügler M,Maurer A,Heitmann JS,Hagelstein I,Märklin M,Hörner S,Todenhöfer T,Calaminus C,Stenzl A,Pichler B,la Fougère C,Schneider MA,Rammensee HG,Zender L,Sipos B,

更新日期：2020-12-29 00:00:00

abstract：:Sterile inflammation underlies many diseases of the cornea including serious chemical burns and the common dry eye syndrome. In search for therapeutic targets for corneal inflammation, we defined the kinetics of neutrophil infiltration in a model of sterile injury to the cornea and identified molecular and cellular me...

journal_title：EMBO molecular medicine

authors： Oh JY,Choi H,Lee RH,Roddy GW,Ylöstalo JH,Wawrousek E,Prockop DJ

更新日期：2012-05-01 00:00:00

abstract：:Translational read-through-inducing drugs (TRIDs) promote read-through of nonsense mutations, placing them in the spotlight of current gene-based therapeutic research. Here, we compare for the first time the relative efficacies of new-generation aminoglycosides NB30, NB54 and the chemical compound PTC124 on retinal to...

journal_title：EMBO molecular medicine

authors： Goldmann T,Overlack N,Möller F,Belakhov V,van Wyk M,Baasov T,Wolfrum U,Nagel-Wolfrum K

更新日期：2012-11-01 00:00:00

abstract：:The insulin/insulin-like growth factor-1 signalling (IIS) pathway regulates cellular and organismal metabolism and controls the rate of aging. Gain-of-function mutations in p110α, the principal mammalian IIS-responsive isoform of PI 3-kinase (PI3K), promote cancer. In contrast, loss-of-function mutations in p110α impa...

journal_title：EMBO molecular medicine

authors： Foukas LC,Bilanges B,Bettedi L,Pearce W,Ali K,Sancho S,Withers DJ,Vanhaesebroeck B

更新日期：2013-04-01 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：:Endothelial dysfunction is critically involved in the pathogenesis of pulmonary arterial hypertension (PAH) and that exogenously administered microRNA may be of therapeutic benefit. Lower levels of miR-483 were found in serum from patients with idiopathic pulmonary arterial hypertension (IPAH), particularly those with...

journal_title：EMBO molecular medicine

authors： Zhang J,He Y,Yan X,Chen S,He M,Lei Y,Zhang J,Gongol B,Gu M,Miao Y,Bai L,Cui X,Wang X,Zhang Y,Fan F,Li Z,Shen Y,Chou CH,Huang HD,Malhotra A,Rabinovitch M,Jing ZC,Shyy JY

更新日期：2020-05-08 00:00:00

abstract：:Organismal ageing is a complex process driving progressive impairment of functionality and regenerative potential of tissues. Cellular senescence is a state of stable cell cycle arrest occurring in response to damage and stress and is considered a hallmark of ageing. Senescent cells accumulate in multiple organs durin...

journal_title：EMBO molecular medicine

authors： Paez-Ribes M,González-Gualda E,Doherty GJ,Muñoz-Espín D

更新日期：2019-12-01 00:00:00

abstract：:Over thousands of years microbes and mammals have co-evolved, resulting in extraordinarily sophisticated molecular mechanisms permitting the organisms to survive together. Mycobacterium tuberculosis is one of the best examples of successful co-evolution, since the bacilli have infected one third of the human populatio...

journal_title：EMBO molecular medicine

authors： Mortellaro A,Robinson L,Ricciardi-Castagnoli P

更新日期：2009-04-01 00:00:00

abstract：:Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult-onset (type IV) SMA. There is currently ...

journal_title：EMBO molecular medicine

authors： Sahashi K,Ling KK,Hua Y,Wilkinson JE,Nomakuchi T,Rigo F,Hung G,Xu D,Jiang YP,Lin RZ,Ko CP,Bennett CF,Krainer AR

更新日期：2013-10-01 00:00:00