A novel thermoregulatory role for PDE10A in mouse and human adipocytes.

abstract：:Perturbation of lipid metabolism favours progression of Alzheimer disease, in which processing of Amyloid Precursor Protein (APP) has important implications. APP cleavage is tightly regulated by cholesterol and APP fragments regulate lipid homeostasis. Here, we investigated whether up or down regulation of full-length...

journal_title：EMBO molecular medicine

authors： Pierrot N,Tyteca D,D'auria L,Dewachter I,Gailly P,Hendrickx A,Tasiaux B,Haylani LE,Muls N,N'kuli F,Laquerrière A,Demoulin JB,Campion D,Brion JP,Courtoy PJ,Kienlen-Campard P,Octave JN

更新日期：2013-04-01 00:00:00

abstract：:Muscle-invasive forms of urothelial carcinomas are responsible for most mortality in bladder cancer. Finding new treatments for invasive bladder tumours requires adequate animal models to decipher the mechanisms of progression, in particular the way tumours interact with their microenvironment. Herein, using the murin...

journal_title：EMBO molecular medicine

authors： El Behi M,Krumeich S,Lodillinsky C,Kamoun A,Tibaldi L,Sugano G,De Reynies A,Chapeaublanc E,Laplanche A,Lebret T,Allory Y,Radvanyi F,Lantz O,Eiján AM,Bernard-Pierrot I,Théry C

更新日期：2013-12-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) is the most frequent hereditary systemic autoinflammatory syndrome. FMF is usually caused by biallelic mutations in the MEFV gene, encoding Pyrin. Conclusive genetic evidence lacks for about 30% of patients diagnosed with clinical FMF. Pyrin is an inflammasome sensor maintained inact...

journal_title：EMBO molecular medicine

authors： Magnotti F,Lefeuvre L,Benezech S,Malsot T,Waeckel L,Martin A,Kerever S,Chirita D,Desjonqueres M,Duquesne A,Gerfaud-Valentin M,Laurent A,Sève P,Popoff MR,Walzer T,Belot A,Jamilloux Y,Henry T

更新日期：2019-11-07 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：:While increased VEGF-A has been associated with neovascular age-related macular degeneration (AMD), it is not known whether VEGF-A may also promote other age-related eye diseases. Here, we show that an increase in VEGF-A is sufficient to cause multiple distinct common aging diseases of the eye, including cataracts and...

journal_title：EMBO molecular medicine

authors： Marneros AG

更新日期：2016-03-01 00:00:00

abstract：:The endocrine system is crucial for maintaining whole-body homeostasis. Little is known regarding endocrine hormones secreted by the heart other than atrial/brain natriuretic peptides discovered over 30 years ago. Here, we identify growth differentiation factor 15 (GDF15) as a heart-derived hormone that regulates body...

journal_title：EMBO molecular medicine

authors： Wang T,Liu J,McDonald C,Lupino K,Zhai X,Wilkins BJ,Hakonarson H,Pei L

更新日期：2017-08-01 00:00:00

abstract：:Mutations of the mitochondrial PTEN (phosphatase and tensin homologue)-induced kinase1 (PINK1) are important causes of recessive Parkinson disease (PD). Studies on loss of function and overexpression implicate PINK1 in apoptosis, abnormal mitochondrial morphology, impaired dopamine release and motor deficits. However,...

journal_title：EMBO molecular medicine

authors： Morais VA,Verstreken P,Roethig A,Smet J,Snellinx A,Vanbrabant M,Haddad D,Frezza C,Mandemakers W,Vogt-Weisenhorn D,Van Coster R,Wurst W,Scorrano L,De Strooper B

更新日期：2009-05-01 00:00:00

abstract：:Trop-2, a cell surface glycoprotein, contains both extracellular epidermal growth factor-like and thyroglobulin type-1 repeat domains. Low TROP2 expression was observed in lung adenocarcinoma tissues as compared with their normal counterparts. The lack of expression could be due to either the loss of heterozygosity (L...

journal_title：EMBO molecular medicine

authors： Lin JC,Wu YY,Wu JY,Lin TC,Wu CT,Chang YL,Jou YS,Hong TM,Yang PC

更新日期：2012-06-01 00:00:00

abstract：:On November 14 last year, the British Guardian published an account from an anonymous whistleblower at Google, accusing the company of misconduct in regard to handling sensitive health data. The whistleblower works for Project Nightingale, an attempt by Google to get into the lucrative US healthcare market, by storing...

journal_title：EMBO molecular medicine

authors： Schneble CO,Elger BS,Shaw DM

更新日期：2020-03-06 00:00:00

abstract：:Initiating neoplastic cell transformation events are of paramount importance for the comprehension of regeneration and vanguard oncogenic processes but are difficult to characterize and frequently clinically overlooked. In epithelia, pre-neoplastic transformation stages are often distinguished by the appearance of phe...

journal_title：EMBO molecular medicine

authors： Regalo G,Leutz A

更新日期：2013-08-01 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：: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：: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：:The current management of colorectal cancer (CRC) would greatly benefit from non-invasive prognostic biomarkers indicative of clinicopathological tumor characteristics. Here, we employed targeted proteomic profiling of 80 glycoprotein biomarker candidates across plasma samples of a well-annotated patient cohort with c...

journal_title：EMBO molecular medicine

authors： Surinova S,Radová L,Choi M,Srovnal J,Brenner H,Vitek O,Hajdúch M,Aebersold R

更新日期：2015-09-01 00:00:00

abstract：:Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(...

journal_title：EMBO molecular medicine

authors： Ferone G,Thomason HA,Antonini D,De Rosa L,Hu B,Gemei M,Zhou H,Ambrosio R,Rice DP,Acampora D,van Bokhoven H,Del Vecchio L,Koster MI,Tadini G,Spencer-Dene B,Dixon M,Dixon J,Missero C

更新日期：2012-03-01 00:00:00

abstract：:Migraine is a common disabling brain disorder. A subtype of migraine with aura (familial hemiplegic migraine type 2: FHM2) is caused by loss-of-function mutations in α2 Na(+),K(+) ATPase (α2 NKA), an isoform almost exclusively expressed in astrocytes in adult brain. Cortical spreading depression (CSD), the phenomenon ...

journal_title：EMBO molecular medicine

authors： Capuani C,Melone M,Tottene A,Bragina L,Crivellaro G,Santello M,Casari G,Conti F,Pietrobon D

更新日期：2016-08-01 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：:Lysosomal storage diseases (LSDs) are a group of genetic disorders due to defects in any aspect of lysosomal biology. During the past two decades, different approaches have been introduced for the treatment of these conditions. Among them, enzyme replacement therapy (ERT) represented a major advance and is used succes...

journal_title：EMBO molecular medicine

authors： Parenti G

更新日期：2009-08-01 00:00:00

abstract：:The transcription factors of the MYC family play pivotal roles in the initiation and progression of human cancers. High oncogenic level of MYC invades low-affinity sites and enhancer sequences, which subsequently alters the transcriptome, causes metabolic imbalance, and induces stress response. The endoplasmic reticul...

journal_title：EMBO molecular medicine

authors： Zhang T,Li N,Sun C,Jin Y,Sheng X

更新日期：2020-05-08 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：: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：:Disease modeling with induced pluripotent stem cells (iPSCs) is creating an abundance of phenotypic information that has become difficult to follow and interpret. Here, we report a systematic analysis of research practices and reporting bias in neurological disease models from 93 published articles. We find heterogene...

journal_title：EMBO molecular medicine

authors： Hollingsworth EW,Vaughn JE,Orack JC,Skinner C,Khouri J,Lizarraga SB,Hester ME,Watanabe F,Kosik KS,Imitola J

更新日期：2017-12-01 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：: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 tumor suppressor gene TP53 is the most frequently mutated gene in cancer. The compound APR-246 (PRIMA-1Met/Eprenetapopt) is converted to methylene quinuclidinone (MQ) that targets mutant p53 protein and perturbs cellular antioxidant balance. APR-246 is currently tested in a phase III clinical trial in myelodysplas...

journal_title：EMBO molecular medicine

authors： Ceder S,Eriksson SE,Cheteh EH,Dawar S,Corrales Benitez M,Bykov VJN,Fujihara KM,Grandin M,Li X,Ramm S,Behrenbruch C,Simpson KJ,Hollande F,Abrahmsen L,Clemons NJ,Wiman KG

更新日期：2020-12-14 00:00:00

abstract：:Intellectual disability (ID) is a condition that affects approximately 1% of the population (Maulik et al, 2011). The numbers may differ across nations, owing to different systems and diagnosis entries or lack of such, but usually range between 0.6 and 3% (Stromme & Valvatne, 1998). Persons with ID are a heterogeneous...

journal_title：EMBO molecular medicine

authors： Kolset SO

更新日期：2020-10-07 00:00:00

abstract：:Atherosclerosis, the major cause of cardiovascular disease, is a chronic inflammatory disease characterized by the accumulation of lipids and inflammatory cells in the artery wall. Aberrant expression of microRNAs has been implicated in the pathophysiological processes underlying the progression of atherosclerosis. He...

journal_title：EMBO molecular medicine

authors： Canfrán-Duque A,Rotllan N,Zhang X,Fernández-Fuertes M,Ramírez-Hidalgo C,Araldi E,Daimiel L,Busto R,Fernández-Hernando C,Suárez Y

更新日期：2017-09-01 00:00:00

abstract：:Mitochondrial (mt) diseases are multisystem disorders due to mutations in nuclear or mtDNA genes. Among the latter, more than 50% are located in transfer RNA (tRNA) genes and are responsible for a wide range of syndromes, for which no effective treatment is available at present. We show that three human mt aminoacyl-t...

journal_title：EMBO molecular medicine

authors： Perli E,Giordano C,Pisano A,Montanari A,Campese AF,Reyes A,Ghezzi D,Nasca A,Tuppen HA,Orlandi M,Di Micco P,Poser E,Taylor RW,Colotti G,Francisci S,Morea V,Frontali L,Zeviani M,d'Amati G

更新日期：2014-02-01 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：: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