Balancing the fat: lipid droplets and human disease.

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：:KCNN3, encoding the small conductance calcium-activated potassium channel SK3, harbours a polymorphic CAG repeat in the amino-terminal coding region with yet unproven function. Hypothesizing that KCNN3 genotypes do not influence susceptibility to schizophrenia but modify its phenotype, we explored their contribution t...

journal_title：EMBO molecular medicine

authors： Grube S,Gerchen MF,Adamcio B,Pardo LA,Martin S,Malzahn D,Papiol S,Begemann M,Ribbe K,Friedrichs H,Radyushkin KA,Müller M,Benseler F,Riggert J,Falkai P,Bickeböller H,Nave KA,Brose N,Stühmer W,Ehrenreich H

更新日期：2011-06-01 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：: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：:Glycine transporters (GlyT1 and GlyT2) that regulate levels of brain glycine, an inhibitory neurotransmitter with co-agonist activity for NMDA receptors (NMDARs), have been considered to be important targets for the treatment of brain disorders with suppressed NMDAR function such as schizophrenia. However, it remains ...

journal_title：EMBO molecular medicine

authors： Bae M,Roh JD,Kim Y,Kim SS,Han HM,Yang E,Kang H,Lee S,Kim JY,Kang R,Jung H,Yoo T,Kim H,Kim D,Oh H,Han S,Kim D,Han J,Bae YC,Kim H,Ahn S,Chan AM,Lee D,Kim JW,Kim E

更新日期：2021-01-11 00:00:00

abstract：:Germ-line mutations in the BRCA1 gene strongly predispose women to breast cancer (lifetime risk up to 80%). Furthermore, the BRCA1 protein is absent or present at very low levels in about one third of sporadic breast cancers. However, the mechanisms underlying BRCA1 somatic inactivation appear multiple and are still n...

journal_title：EMBO molecular medicine

authors： Garcia AI,Buisson M,Bertrand P,Rimokh R,Rouleau E,Lopez BS,Lidereau R,Mikaélian I,Mazoyer S

更新日期：2011-05-01 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：:In mammals, proper storage and distribution of lipids in and between tissues is essential for the maintenance of energy homeostasis. Here, we show that tumour growth triggers hepatic metabolic dysfunction as part of the cancer cachectic phenotype, particularly by reduced hepatic very-low-density-lipoprotein (VLDL) sec...

journal_title：EMBO molecular medicine

authors： Jones A,Friedrich K,Rohm M,Schäfer M,Algire C,Kulozik P,Seibert O,Müller-Decker K,Sijmonsma T,Strzoda D,Sticht C,Gretz N,Dallinga-Thie GM,Leuchs B,Kögl M,Stremmel W,Diaz MB,Herzig S

更新日期：2013-02-01 00:00:00

abstract：:The tumour microenvironment is known to play an integral role in facilitating cancer progression at advanced stages, but its function in some pre-cancerous lesions remains elusive. We have used the (V600) (E)BRAF-driven mouse lung model that develop premalignant lesions to understand stroma-tumour interactions during ...

journal_title：EMBO molecular medicine

authors： Kamata T,Jin H,Giblett S,Patel B,Patel F,Foster C,Pritchard C

更新日期：2015-09-01 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：: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：:Fibroblast growth factors (FGFs) play key roles in the pathogenesis of different human diseases, but the cross-talk between FGFs and other cytokines remains largely unexplored. We identified an unexpected antagonistic effect of FGFs on the interferon (IFN) signaling pathway. Genetic or pharmacological inhibition of FG...

journal_title：EMBO molecular medicine

authors： Maddaluno L,Urwyler C,Rauschendorfer T,Meyer M,Stefanova D,Spörri R,Wietecha M,Ferrarese L,Stoycheva D,Bender D,Li N,Strittmatter G,Nasirujjaman K,Beer HD,Staeheli P,Hildt E,Oxenius A,Werner S

更新日期：2020-09-07 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：:Hypoxic microenvironment plays an important role in determining stem cell fates. However, it is controversial to which direction between self-renewal and differentiation the hypoxia drives the stem cells. Here, we investigated whether a short exposure to hypoxia (termed 'hypoxic-priming') efficiently directed and prom...

journal_title：EMBO molecular medicine

authors： Lee SW,Jeong HK,Lee JY,Yang J,Lee EJ,Kim SY,Youn SW,Lee J,Kim WJ,Kim KW,Lim JM,Park JW,Park YB,Kim HS

更新日期：2012-09-01 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：:Gene therapy critically relies on vectors that combine high transduction efficiency with a high degree of target specificity and that can be administered through a safe intravenous route. The lack of suitable vectors, especially for gene therapy of brain disorders, represents a major obstacle. Therefore, we applied an...

journal_title：EMBO molecular medicine

authors： Körbelin J,Dogbevia G,Michelfelder S,Ridder DA,Hunger A,Wenzel J,Seismann H,Lampe M,Bannach J,Pasparakis M,Kleinschmidt JA,Schwaninger M,Trepel M

更新日期：2016-06-01 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：: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：:Focal epilepsy represents one of the most common chronic CNS diseases. The high incidence of drug resistance, devastating comorbidities, and insufficient responsiveness to surgery pose unmet medical challenges. In the quest of novel, disease-modifying treatment strategies of neuropeptides represent promising candidate...

journal_title：EMBO molecular medicine

authors： Agostinho AS,Mietzsch M,Zangrandi L,Kmiec I,Mutti A,Kraus L,Fidzinski P,Schneider UC,Holtkamp M,Heilbronn R,Schwarzer C

更新日期：2019-10-01 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：: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

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：: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：: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：:Wnt/β-catenin signalling has been suggested to be active in basal-like breast cancer. However, in highly aggressive metastatic triple-negative breast cancers (TNBC) the role of β-catenin and the underlying mechanism(s) for the aggressiveness of TNBC remain unknown. We illustrate that WNT10B induces transcriptionally a...

journal_title：EMBO molecular medicine

authors： Wend P,Runke S,Wend K,Anchondo B,Yesayan M,Jardon M,Hardie N,Loddenkemper C,Ulasov I,Lesniak MS,Wolsky R,Bentolila LA,Grant SG,Elashoff D,Lehr S,Latimer JJ,Bose S,Sattar H,Krum SA,Miranda-Carboni GA

更新日期：2013-02-01 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：: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：: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：:Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence va...

journal_title：EMBO molecular medicine

authors： Falik-Zaccai TC,Barsheshet Y,Mandel H,Segev M,Lorber A,Gelberg S,Kalfon L,Ben Haroush S,Shalata A,Gelernter-Yaniv L,Chaim S,Raviv Shay D,Khayat M,Werbner M,Levi I,Shoval Y,Tal G,Shalev S,Reuveni E,Avitan-Hersh E,V

更新日期：2017-03-01 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