Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter.

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：:Both the incidence and prevalence of inflammatory bowel disease (IBD) is increasing globally; in the industrialized world up to 0.5% of the population are affected and around 4.2 million individuals suffer from IBD in Europe and North America combined. Successful engraftment in experimental colitis models suggests tha...

journal_title：EMBO molecular medicine

authors： Holmberg FE,Seidelin JB,Yin X,Mead BE,Tong Z,Li Y,Karp JM,Nielsen OH

更新日期：2017-05-01 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：: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：:Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), which are caused by inactivating mutations in ABCC6 and ENPP1, respectively, present with extensive tissue calcification due to reduced plasma pyrophosphate (PPi). However, it has always been assumed th...

journal_title：EMBO molecular medicine

authors： Dedinszki D,Szeri F,Kozák E,Pomozi V,Tőkési N,Mezei TR,Merczel K,Letavernier E,Tang E,Le Saux O,Arányi T,van de Wetering K,Váradi A

更新日期：2017-11-01 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：:Follistatin-like 1 (Fstl1) is a secreted protein that is acutely induced in heart following myocardial infarction (MI). In this study, we investigated cell type-specific regulation of Fstl1 and its function in a murine model of MI Fstl1 was robustly expressed in fibroblasts and myofibroblasts in the infarcted area com...

journal_title：EMBO molecular medicine

authors： Maruyama S,Nakamura K,Papanicolaou KN,Sano S,Shimizu I,Asaumi Y,van den Hoff MJ,Ouchi N,Recchia FA,Walsh K

更新日期：2016-08-01 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：: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：: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：:In the last century, vaccination has been the most effective medical intervention to reduce death and morbidity caused by infectious diseases. It is believed that vaccines save at least 2-3 million lives per year worldwide. Smallpox has been eradicated and polio has almost disappeared worldwide through global vaccine ...

journal_title：EMBO molecular medicine

authors： Delany I,Rappuoli R,De Gregorio E

更新日期：2014-06-01 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：: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：: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：: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：:The tumor suppressors Pten and p53 are frequently lost in breast cancer, yet the consequences of their combined inactivation are poorly understood. Here, we show that mammary-specific deletion of Pten via WAP-Cre, which targets alveolar progenitors, induced tumors with shortened latency compared to those induced by MM...

journal_title：EMBO molecular medicine

authors： Liu JC,Voisin V,Wang S,Wang DY,Jones RA,Datti A,Uehling D,Al-awar R,Egan SE,Bader GD,Tsao M,Mak TW,Zacksenhaus E

更新日期：2014-12-01 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

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：:Castrate-resistant prostate cancer (CRPC) is poorly characterized and heterogeneous and while the androgen receptor (AR) is of singular importance, other factors such as c-Myc and the E2F family also play a role in later stage disease. HES6 is a transcription co-factor associated with stem cell characteristics in neur...

journal_title：EMBO molecular medicine

authors： Ramos-Montoya A,Lamb AD,Russell R,Carroll T,Jurmeister S,Galeano-Dalmau N,Massie CE,Boren J,Bon H,Theodorou V,Vias M,Shaw GL,Sharma NL,Ross-Adams H,Scott HE,Vowler SL,Howat WJ,Warren AY,Wooster RF,Mills IG,Neal DE

更新日期：2014-05-01 00:00:00

abstract：:Hearing relies on mechanically gated ion channels present in the actin-rich stereocilia bundles at the apical surface of cochlear hair cells. Our knowledge of the mechanisms underlying the formation and maintenance of the sound-receptive structure is limited. Utilizing a large-scale forward genetic screen in mice, gen...

journal_title：EMBO molecular medicine

authors： Dunbar LA,Patni P,Aguilar C,Mburu P,Corns L,Wells HR,Delmaghani S,Parker A,Johnson S,Williams D,Esapa CT,Simon MM,Chessum L,Newton S,Dorning J,Jeyarajan P,Morse S,Lelli A,Codner GF,Peineau T,Gopal SR,Alagramam K

更新日期：2019-09-01 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：: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：: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：: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：: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：:Nutrient availability is the major regulator of life and reproduction, and a complex cellular signaling network has evolved to adapt organisms to fasting. These sensor pathways monitor cellular energy metabolism, especially mitochondrial ATP production and NAD(+)/NADH ratio, as major signals for nutritional state. We ...

journal_title：EMBO molecular medicine

authors： Khan NA,Auranen M,Paetau I,Pirinen E,Euro L,Forsström S,Pasila L,Velagapudi V,Carroll CJ,Auwerx J,Suomalainen A

更新日期：2014-06-01 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：: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：: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 search for non-invasive systemic biomarkers of response to PD-L1/PD-1 blockade immunotherapy is currently a priority in oncoimmunology. In contrast to classical tumor biomarkers, the identification of clinically useful immunological biomarkers is certainly a challenge, as anti-cancer immune responses depend on the...

journal_title：EMBO molecular medicine

authors： Zuazo M,Arasanz H,Bocanegra A,Chocarro L,Vera R,Escors D,Kagamu H,Kochan G

更新日期：2020-09-07 00:00:00