Identification and characterization of GLDC as host susceptibility gene to severe influenza
Glycine decarboxylase (GLDC) modulates host antiviral response upon viral infection due to the existence of GLDC ‐pyrimidine biosynthesis‐innate immunity axis. The inter‐individual differential GLDC expression derived from genetic variation may dictate the susceptibility to severe influenza. AbstractGlycine decarboxylase (GLDC) was prioritized as a candidate susceptibility gene to severe influenza in humans. The higher expression of GLDC derived from genetic variations may confer a higher risk to H7N9 and severe H1N1 infection. We sought to characterize GLDC as functional susceptibility gene that GLDC may intrinsical...
Source: EMBO Molecular Medicine - November 28, 2018 Category: Molecular Biology Authors: Jie Zhou,
Dong Wang,
Bosco Ho ‐Yin Wong,
Cun Li,
Vincent Kwok‐Man Poon,
Lei Wen,
Xiaoyu Zhao,
Man Chun Chiu,
Xiaojuan Liu,
Ziwei Ye,
Shuofeng Yuan,
Kong‐Hung Sze,
Jasper Fuk‐Woo Chan,
Hin Chu,
Kelvin Kai‐Wang To,
Kwok Yung Yuen Tags: Research Article Source Type: research
CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline
In conclusion, we demonstrate that, although CSF PGRN is not a diagnostic biomarker for AD, it may together with sTREM2 reflect microglial activa tion during the disease. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 27, 2018 Category: Molecular Biology Authors: Marc Su árez‐Calvet,
Anja Capell,
Miguel Ángel Araque Caballero,
Estrella Morenas‐Rodríguez,
Katrin Fellerer,
Nicolai Franzmeier,
Gernot Kleinberger,
Erden Eren,
Yuetiva Deming,
Laura Piccio,
Celeste M Karch,
Carlos Cruchaga,
Katrina Pa Tags: Research Article Source Type: research
β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
This study proposes a powerful therapy for COQ9 or COQ7 deficiencies. The novel therapeutic strategy is based on oral administration of β‐RA, showing superior outcomes to those obtained after oral CoQ10 supplementation, as demonstrated in the mitochondrial encephalopathyCoq9R239X mouse model. AbstractCoenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. In some cases, the exogenous CoQ supplementation has limited efficacy. In theCoq9R239X mouse model with fatal mitochondrial encephalopathy due to CoQ deficiency, we have tested the therapeutic potenti...
Source: EMBO Molecular Medicine - November 27, 2018 Category: Molecular Biology Authors: Agust ín Hidalgo‐Gutiérrez,
Eliana Barriocanal‐Casado,
Mohammed Bakkali,
M Elena Díaz‐Casado,
Laura Sánchez‐Maldonado,
Miguel Romero,
Ramy K Sayed,
Cornelia Prehn,
Germaine Escames,
Juan Duarte,
Darío Acuña‐Castroviejo,
Luis C L Tags: Research Article Source Type: research
PARP ‐1 regulates DNA repair factor availability
By integrating data generated in model systems and human tissues, andin silico analyses of cancer patient ‐derived data, this study reveals that PARP‐1 affects the expression of DNA repair factors through E2F1. Co‐targeting PARP‐1 and the cell cycle machinery could be a novel treatment strategy. AbstractPARP ‐1 holds major functions on chromatin, DNA damage repair and transcriptional regulation, both of which are relevant in the context of cancer. Here, unbiased transcriptional profiling revealed the downstream transcriptional profile of PARP‐1 enzymatic activity. Further investigation of the PARP‐ 1‐regula...
Source: EMBO Molecular Medicine - November 22, 2018 Category: Molecular Biology Authors: Matthew J Schiewer,
Amy C Mandigo,
Nicolas Gordon,
Fangjin Huang,
Sanchaika Gaur,
Ren ée Leeuw,
Shuang G Zhao,
Joseph Evans,
Sumin Han,
Theodore Parsons,
Ruth Birbe,
Peter McCue,
Christopher McNair,
Saswati N Chand,
Ylenia Cendon‐Florez, Tags: Research Article Source Type: research
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology
Whole ‐exome sequencing in a consanguineous family with Congenital Hypothyroidism (CH) revealed a novel homozygous mutation inTUBB1, encoding for a member of beta ‐tubulins, essential for microtubule organisation. Until now,TUBB1 mutations were only known to be involved in platelet disorders. AbstractThe genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novelTUBB1 gene mutations that co ‐segregated with TD in three distinct families leading to 1.1% ofTUBB1 mutations in TD study cohort.TUBB1 (Tubulin, Beta 1 Class VI) encodes for a member of the β...
Source: EMBO Molecular Medicine - November 19, 2018 Category: Molecular Biology Authors: Athanasia Stoupa,
Fr édéric Adam,
Dulanjalee Kariyawasam,
Catherine Strassel,
Sanjay Gawade,
Gabor Szinnai,
Alexandre Kauskot,
Dominique Lasne,
Carsten Janke,
Kathiresan Natarajan,
Alain Schmitt,
Christine Bole‐Feysot,
Patrick Nitschke,
J Tags: Research Article Source Type: research
Rescuing ocular development in an anophthalmic pig by blastocyst complementation
Blastocyst complementation is a new route for regenerating allogeneic organs in pigs for xenotransplantation, but reconstituting complicated organs, like a whole eye, was never done up to now. This strategy offers potentials for generating personalized human patient ‐specific organs in large animals. AbstractPorcine ‐derived xenogeneic sources for transplantation are a promising alternative strategy for providing organs for treatment of end‐stage organ failure in human patients because of the shortage of human donor organs. The recently developed blastocyst or pluripotent stem cell (PSC) complementation str ategy ope...
Source: EMBO Molecular Medicine - November 16, 2018 Category: Molecular Biology Authors: Hongyong Zhang,
Jiaojiao Huang,
Zechen Li,
Guosong Qin,
Nan Zhang,
Tang Hai,
Qianlong Hong,
Qiantao Zheng,
Ying Zhang,
Ruigao Song,
Jing Yao,
Chunwei Cao,
Jianguo Zhao,
Qi Zhou Tags: Research Article Source Type: research
Radiation combined with macrophage depletion promotes adaptive immunity and potentiates checkpoint blockade
Increased CSF ‐1 is here observed in response to tumour irradiation. Subsequent recruitment of immunosuppressive macrophages rendered the tumour microenvironment resistant to immune‐mediated tumour cell killing. Blocking CSF‐1 reduced tumour‐associated macrophages and increased sensitivity to immune check point blockade. AbstractEmerging evidence suggests a role for radiation in eliciting anti ‐tumour immunity. We aimed to investigate the role of macrophages in modulating the immune response to radiation. Irradiation to murine tumours generated from colorectal (MC38) and pancreatic (KPC) cell lines induced colony...
Source: EMBO Molecular Medicine - November 15, 2018 Category: Molecular Biology Authors: Keaton I Jones,
Jiske Tiersma,
Arseniy E Yuzhalin,
Alex N Gordon ‐Weeks,
Jon Buzzelli,
Jae Hong Im,
Ruth J Muschel Tags: Research Article Source Type: research
Biopsy ‐free screening for glioma
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 6, 2018 Category: Molecular Biology Authors: Alexandre Pellan Cheng,
Philip Burnham,
Iwijn De Vlaminck Source Type: research
Detection of cell ‐free DNA fragmentation and copy number alterations in cerebrospinal fluid from glioma patients
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 6, 2018 Category: Molecular Biology Authors: Florent Mouliere,
Richard Mair,
Dineika Chandrananda,
Francesco Marass,
Christopher G Smith,
Jing Su,
James Morris,
Colin Watts,
Kevin M Brindle,
Nitzan Rosenfeld Source Type: research
Loss of the mitochondrial i ‐AAA protease YME1L leads to ocular dysfunction and spinal axonopathy
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 2, 2018 Category: Molecular Biology Authors: Hans ‐Georg Sprenger,
Gulzar Wani,
Annika Hesseling,
Tim König,
Maria Patron,
Thomas MacVicar,
Sofia Ahola,
Timothy Wai,
Esther Barth,
Elena I Rugarli,
Matteo Bergami,
Thomas Langer Source Type: research
Mitochondrial glycerol 3 ‐phosphate dehydrogenase promotes skeletal muscle regeneration
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 2, 2018 Category: Molecular Biology Authors: Xiufei Liu,
Hua Qu,
Yi Zheng,
Qian Liao,
Linlin Zhang,
Xiaoyu Liao,
Xin Xiong,
Yuren Wang,
Rui Zhang,
Hui Wang,
Qiang Tong,
Zhenqi Liu,
Hui Dong,
Gangyi Yang,
Zhiming Zhu,
Jing Xu,
Hongting Zheng Source Type: research
PDX models recapitulate the genetic and epigenetic landscape of pediatric T ‐cell leukemia
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - November 2, 2018 Category: Molecular Biology Authors: Paulina Richter ‐Pechańska,
Joachim B Kunz,
Beat Bornhauser,
Caroline Knebel Doeberitz,
Tobias Rausch,
Büşra Erarslan‐Uysal,
Yassen Assenov,
Viktoras Frismantas,
Blerim Marovca,
Sebastian M Waszak,
Martin Zimmermann,
Julia Seemann,
Marg Source Type: research
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - October 30, 2018 Category: Molecular Biology Authors: Marta Castroviejo ‐Bermejo,
Cristina Cruz,
Alba Llop‐Guevara,
Sara Gutiérrez‐Enríquez,
Mandy Ducy,
Yasir Hussein Ibrahim,
Albert Gris‐Oliver,
Benedetta Pellegrino,
Alejandra Bruna,
Marta Guzmán,
Olga Rodríguez,
Judit Grueso,
Sandra Source Type: research
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - October 29, 2018 Category: Molecular Biology Authors: Jana Buzkova,
Joni Nikkanen,
Sofia Ahola,
Anna H Hakonen,
Ksenia Sevastianova,
Topi Hovinen,
Hannele Yki ‐Järvinen,
Kirsi H Pietiläinen,
Tuula Lönnqvist,
Vidya Velagapudi,
Christopher J Carroll,
Anu Suomalainen Source Type: research
EGFR is required for FOS ‐dependent bone tumor development via RSK2/CREB signaling
EMBO Molecular Medicine, EarlyView. (Source: EMBO Molecular Medicine)
Source: EMBO Molecular Medicine - October 25, 2018 Category: Molecular Biology Authors: Markus Linder,
Elisabeth Glitzner,
Sriram Srivatsa,
Latifa Bakiri,
Kazuhiko Matsuoka,
Parastoo Shahrouzi,
Monika Dumanic,
Philipp Novoszel,
Thomas Mohr,
Oliver Langer,
Thomas Wanek,
Markus Mitterhauser,
Erwin F Wagner,
Maria Sibilia Source Type: research
