Papers publicados por CBI: Envíos recientes
Mostrando ítems 61-80 de 85
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Serine 25 phosphorylation inhibits RIPK1 kinase-dependent cell death in models of infection and inflammation
(NATURE PUBLISHING GROUP, 2019)RIPK1 regulates cell death and inflammation through kinase-dependent and -independent mechanisms. As a scaffold, RIPK1 inhibits caspase-8-dependent apoptosis and RIPK3/MLKL-dependent necroptosis. As a kinase, RIPK1 ... -
The Protein Tyrosine Phosphatase Receptor Delta Regulates Developmental Neurogenesis
(CELL PRESS, 2020)PTPRD is a receptor protein tyrosine phosphatase that is genetically associated with neurodevelopmental disorders. Here, we asked whether Ptprd mutations cause aberrant neural development by perturbing neurogenesis in the ... -
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
(ELSEVIER SCIENCE INC, 2019)Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort ... -
Tumor Microbiome Diversity and Composition Influence Pancreatic Cancer Outcomes
(CELL PRESS, 2019)Most patients diagnosed with resected pancreatic adenocarcinoma (PDAC) survive less than 5 years, but a minor subset survives longer. Here, we dissect the role of the tumor microbiota and the immune system in influencing ... -
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits
(PUBLIC LIBRARY SCIENCE, 2019)Through forward genetic screening for mutations affecting visual system development, we identified prominent coloboma and cell-autonomous retinal neuron differentiation, lamination and retinal axon projection defects in ... -
Down syndrome and Alzheimer's disease: common molecular traits beyond the amyloid precursor protein
(IMPACT JOURNALS LLC, 2020)Alzheimer's disease (AD) is the most prevalent type of dementia. Down syndrome (DS) is the leading genetic risk factor for Early-Onset AD, prematurely presenting the classic pathological features of the brain with AD. ... -
Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis
(BMC, 2019)BackgroundAmyotrophic lateral sclerosis (ALS) is a multifactorial fatal motoneuron disease without a cure. Ten percent of ALS cases can be pointed to a clear genetic cause, while the remaining 90% is classified as sporadic. ... -
MTOR-independent autophagy induced by interrupted endoplasmic reticulum-mitochondrial Ca2+ communication: a dead end in cancer cells
(TAYLOR & FRANCIS INC, 2019)The interruption of endoplasmic reticulum (ER)-mitochondrial Ca2+ communication induces a bioenergetic crisis characterized by an increase of MTOR-independent AMPK-dependent macroautophagic/autophagic flux, which is not ... -
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
(NATURE PUBLISHING GROUP, 2018)In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ... -
Vitamin D Increases A beta 140 Plasma Levels and Protects Lymphocytes from Oxidative Death in Mild Cognitive Impairment Patients
(BENTHAM SCIENCE PUBL LTD, 2018)Background: Mild cognitive impairment (MCI) has an increased rate of progression to dementia. Alterations of some metabolic factors, such as deficiency of vitamin D, are a risk factor for cognitive deterioration. Vitamin ... -
Axonal degeneration induced by glutamate excitotoxicity is mediated by necroptosis
(COMPANY BIOLOGISTS LTD, 2018)Neuronal excitotoxicity induced by glutamate leads to cell death and functional impairment in a variety of central nervous system pathologies. Glutamate-mediated excitotoxicity triggers neuronal apoptosis in the cell soma ... -
Fishing forward and reverse: Advances in zebrafish phenomics
(ELSEVIER, 2018)Understanding how the genome instructs the phenotypic characteristics of an organism is one of the major scientific endeavors of our time. Advances in genetics have progressively deciphered the inheritance, identity and ... -
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(BMJ PUBLISHING GROUP, 2018)Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ... -
The inhibition of CTGF/CCN2 activity improves muscle and locomotor function in a murine ALS model
(OXFORD UNIV PRESS, 2018)Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ... -
Outside in: Unraveling the Role of Neuroinflammation in the Progression of Parkinson's Disease
(FRONTIERS MEDIA SA, 2018)Neuroinflammation is one of the most important processes involved in the pathogenesis of Parkinson's disease (PD). The current concept of neuroinflammation comprises an inflammation process, which occurs in the central ... -
Mitochondria and Calcium Regulation as Basis of Neurodegeneration Associated With Aging
(FRONTIERS MEDIA SA, 2018)Age is the main risk factor for the onset of neurodegenerative diseases. A decline of mitochondrial function has been observed in several age-dependent neurodegenerative diseases and may be a major contributing factor in ... -
IRE1 alpha governs cytoskeleton remodelling and cell migration through a direct interaction with filamin A
(NATURE PUBLISHING GROUP, 2018)Maintenance of endoplasmic reticulum (ER) proteostasis is controlled by a signalling network known as the unfolded protein response (UPR). Here, we identified filamin A as a major binding partner of the ER stress transducer ... -
Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis
(NATL ACAD SCIENCES, 2018)Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS). Misfolding of wild-type SOD1 (SOD1(WT)) is also observed in postmortem tissue of a subset of ... -
Unraveling the role of motoneuron autophagy in ALS
(TAYLOR & FRANCIS INC, 2018)In recent years, the role of autophagy in the pathogenesis of most neurodegenerative diseases has transitioned into a limbo of protective or detrimental effects. Genetic evidence indicates that mutations in autophagy-regulatory ... -
Origin of axonal proteins: Is the axon-schwann cell unit a functional syncytium?
(CIENCIAS, 2016)The structural homeostasis is challenging for neurons, whose axons extend up to meters in large animals, and the axoplasmic mass reaches over a thousand times that of the cell body. Thus, the protein demand may overcome ...