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PubMed Journals Articles About "Critical Appraisal Tafazzin Knockdown Mouse Model Barth Syndrome" RSS

12:33 EST 17th November 2019 | BioPortfolio

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Showing "Critical Appraisal Tafazzin Knockdown Mouse Model Barth Syndrome" PubMed Articles 1–25 of 32,000+

A Critical Appraisal of the Tafazzin Knockdown Mouse Model of Barth Syndrome: What Have We Learned About Pathogenesis and Potential Treatments?

Pediatric heart failure remains poorly understood, distinct in many aspects from adult heart failure. Limited data point to roles of altered mitochondrial functioning and in particular, changes in mitochondrial lipids, especially cardiolipin. Barth syndrome is a mitochondrial disorder caused by tafazzin mutations that lead to abnormal cardiolipin profiles. Patients are afflicted by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay. A mouse model of Barth syndrome was developed a decade ago, w...


TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from mitochondrial membrane curvature. The protein contains domains and motifs involved in targeting, anchoring, and an active site for transacylase activity. Tafazzin activity affects many aspects of mitochondrial structure and function, including that of the electron tra...

SERCA2a tyrosine nitration coincides with impairments in maximal SERCA activity in left ventricles from tafazzin-deficient mice.

The sarco/endoplasmic reticulum Ca -ATPase (SERCA) is imperative for normal cardiac function regulating both muscle relaxation and contractility. SERCA2a is the predominant isoform in cardiac muscles and is inhibited by phospholamban (PLN). Under conditions of oxidative stress, SERCA2a may also be impaired by tyrosine nitration. Tafazzin (Taz) is a mitochondrial-specific transacylase that regulates mature cardiolipin (CL) formation, and its absence leads to mitochondrial dysfunction and excessive production...


Multifaceted Approach to Enhance Pill-Swallowing Ability in Children and Adults With Barth Syndrome.

People with Barth syndrome (BTHS) present with sensory and motor deficits that affect their ability to swallow medications in solid form. Inability to swallow pills can reduce opportunities for people with BTHS to participate in clinical trial research.

Long-term effects of maternal choline supplementation on CA1 pyramidal neuron gene expression in the Ts65Dn mouse model of Down syndrome and Alzheimer's disease.

Choline is critical for normative function of 3 major pathways in the brain, including acetylcholine biosynthesis, being a key mediator of epigenetic regulation, and serving as the primary substrate for the phosphatidylethanolamine N-methyltransferase pathway. Sufficient intake of dietary choline is critical for proper brain function and neurodevelopment. This is especially important for brain development during the perinatal period. Current dietary recommendations for choline intake were undertaken without...

A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome.

Leigh syndrome embodies degenerative disorders with a collection of symptoms secondary to inborn errors of metabolism. Combinations of hypomorphic and loss-of-function alleles in many genes have been shown to result in Leigh syndrome. Interestingly, deficiency for the tricarboxylic acid cycle enzyme succinate dehydrogenase (SDH) can lead to Leigh-like syndrome in some circumstances and to cancer (paraganglioma, renal cell carcinoma, gastrointestinal stromal tumor) in others. In our experiments originally in...

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome.

Cardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease in MFS. This study used morphological and ultrastructural analysis to the understanding of the development of cardiovascular phenotypes of the the mgΔloxPneo model for MFS.

First behavioural assessment of a novel Immp2l knockdown mouse model with relevance for Gilles de la Tourette syndrome and Autism spectrum disorder.

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder, which shares some clinical features with Autism spectrum disorder (ASD). The genetic factors relevant to the development of both disorders are yet to be fully understood, however, some genetic association studies have identified inner mitochondrial membrane peptidase subunit 2 (IMMP2L) as a potential risk gene for both GTS and ASD. The impact of Immp2l deficiency on behavioural domains is currently unknown. A new genetic mouse model for ...

Vitamin D increases the Caspase-3 p12, MTHFR, and P-glycoprotein reducing amyloid-β in the kidney of a mouse model for Down syndrome.

Renal dysfunction has been reported in individuals with Down syndrome (DS); however, the causes and mechanisms involved remain unknown. Here, we present a proposal for how the triplication of the amyloid beta precursor protein (APP) and, mainly the amyloid β peptide 1-42 (Aβ) can favor the development of renal abnormalities in DS. We evaluated the effects of vitamin D (VD) supplementation on morphofunctional aspects and the repercussions on the presence and localization of Aβ, methylenetetrahydrofolate r...

Spontaneous Model of Sjögren's Syndrome in NOD Mice.

The non-obese diabetic (NOD) mouse model is the most widely described and validated method for investigating human primary Sjögren's syndrome (SS) and represents a useful model for translational studies. However, the systemic disease manifestation in NOD mice is sensitive to the housing environment, as stress modulates the immune system, so it is essential to confirm that readouts are robust, reproducible, and sensitive to known clinical treatments. This protocol describes the establishment of the spontane...

Spatio-temporal gradient of cortical neuron death contributes to microcephaly in knock-in mouse model of ligase 4 syndrome.

Cells of the developing central nervous system are particularly susceptible to formation of double-stranded DNA breaks (DSBs) arising from physiological and/or environmental insults. Therefore, efficient repair of DSBs is especially vital for maintaining cellular health and proper functioning in the developing brain. Here, we demonstrate increased expression of DSB initiating and non-homologous end joining repair machinery in newborn neurons in the developing brains of both mouse and human. In parallel, we ...

Psychiatric-disorder-related behavioral phenotypes and cortical hyperactivity in a mouse model of 3q29 deletion syndrome.

3q29 microdeletion, a rare recurrent copy number variant (CNV), greatly confers an increased risk of psychiatric disorders, such as schizophrenia and autism spectrum disorder (ASD), as well as intellectual disability. However, disease-relevant cellular phenotypes of 3q29 deletion syndrome remain to be identified. To reveal the molecular and cellular etiology of 3q29 deletion syndrome, we generated a mouse model of human 3q29 deletion syndrome by chromosome engineering, which achieved construct validity. 3q2...

How to Choose a Mouse Model of Breast Cancer, a Genomic Perspective.

Human breast cancer is a heterogeneous disease with numerous subtypes that have been defined through immunohistological, histological, and gene expression patterns. The diversity of breast cancer has made the study of its various underlying causes complex. To facilitate the examination of particular facets of breast cancer, mouse models have been generated, ranging from carcinogen induced models to genetically engineered mice. While mouse models have been generated to mimic the initiating event, including p...

Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome.

Saethre-Chotzen Syndrome (SCS) is an autosomal dominant syndrome that occurs due to a mutation or deletion of theTwist-related 1 (Twist1) gene at chromosome 7p21. Our aim was to conduct a morphometric analysis of the craniofacial features in the mouse associated with a Twist1 mutation.

Gene expression dysregulation domains are not a specific feature of Down syndrome.

Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), results in a broad range of phenotypes. A recent study reported that DS cells show genome-wide transcriptional changes in which up- or down-regulated genes are clustered in gene expression dysregulation domains (GEDDs). GEDDs were also reported in fibroblasts derived from a DS mouse model duplicated for some Hsa21-orthologous genes, indicating cross-species conservation of this phenomenon. Here we investigate GEDDs using the Dp1Tyb mouse model of D...

Improving the quality of myofascial release research - A critical appraisal of systematic reviews.

Myofascial release (MFR) is a form of manual therapy that involves the application of a low load, long duration stretch to the myofascial complex intended to restore optimal length, decrease pain and improve function. MFR is being used to treat patients with a wide variety of conditions, with favourable evidence supporting its efficacy. Critical appraisal of the recent research trials or reviews aims to improve the quality and reliability of future works in this field.

LKB1 suppresses androgen synthesis in a mouse model of hyperandrogenism via IGF-1 signaling.

Polycystic ovary syndrome (PCOS) is a major cause of anovulatory sterility in women, and most PCOS patients exhibit hyperandrogenism (HA). Liver Kinase b1 (LKB1) is a tumor suppressor that has recently been reported to be involved in PCOS. However, the mechanism by which LKB1 affects HA has not previously been elucidated. We report here that ovarian LKB1 levels are significantly decreased in a female mouse model of HA. Moreover, we report that LKB1 expression is inhibited by elevated androgens via activatio...

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.

Chromatin modifiers act to coordinate gene expression changes critical to neuronal differentiation from neural stem/progenitor cells (NSPCs). Lysine-specific methyltransferase 2D (KMT2D) encodes a histone methyltransferase that promotes transcriptional activation, and is frequently mutated in cancers and in the majority (>70%) of patients diagnosed with the congenital, multisystem intellectual disability (ID) disorder Kabuki syndrome 1 (KS1). Critical roles for KMT2D are established in various non-neural ti...

Propagation of Giardia duodenalis cysts in immunosuppressed CF-1 mice.

This study developed and evaluated Giardia duodenalis cyst propagation using a dexamethasone immunosuppressed CF-1 mouse model as an alternative to a previously described Mongolian gerbil model. The CF-1 mouse model shed significantly more cysts per animal during a 16-18 h collection period compared to the gerbil (averages: 7.8 × 10 cysts/CF-1 mouse and 2.5 × 10 cysts/gerbil). In addition, the patency period for this model differed from both G. muris in mice and G. duodenalis in gerbils in that ...

A Theology of Neediness and Evangelism.

Twentieth century theologian Karl Barth viewed human beings as more needy than any other part of creation. Human neediness leads one into relationship with God or into independence, away from God. Barth understood evangelism as speaking out of one's own deeply felt neediness to another also in need, attesting to what one has come to know of God in his/her own life. His perspective is helpful to nurses wanting to bear witness of God's work in their lives.

A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.

Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health have placed this small organelle in the spotlight. While the causal link between mutations in ciliary genes and central nervous system malformations and dysfunction is well established, the mechanisms by which primary cilia dysfunction acts on development and function of the CNS remain partly unknown. The recent article by Bashford and Subramanian in the Jo...

Aberrant mitochondrial bioenergetics in the cerebral cortex of the Fmr1 knockout mouse model of fragile X syndrome.

Impaired energy metabolism may play a role in the pathogenesis of neurodevelopmental disorders including fragile X syndrome (FXS). We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes, glycerol-3-phosphate shuttle and mitochondrial respiratory chain (MRC) complexes, in the cerebral cortex of the Fmr1 knockout (KO) mouse model of FXS. We found that, despite a hyperactivation of MRC complexes, adenosine triphosphate (ATP) production via mitochond...

Serotonin exerts a direct modulatory role on bladder afferent firing in mice.

Functional disorders (i.e., interstitial cystitis/painful bladder syndrome and irritable bowel syndrome) are associated with hyperexcitability of afferent nerves innervating the urinary tract and the bowel respectively. Various non-5-HT receptor mRNA transcripts are expressed in mouse urothelium and exert functional responses to 5-HT. Whilst 5-HT receptors were not detected in mouse urothelium, 5-HT receptors expressed on bladder sensory neurons plays a role in bladder afferent excitability under both norma...

Critical appraisal of clinical practice guidelines for the diagnosis and treatment of stress urinary incontinence using AGREE II instrument: a systematic review protocol.

Stress urinary incontinence is a major health problem, and several clinical guidelines have been formulated and released regarding this in different countries. However, the recommendations in these guidelines formulated by different organisations and countries are inconsistent. This review aims to conduct a critical appraisal of clinical practice guidelines for the diagnosis and treatment of stress urinary incontinence.

Critical appraisal of the AUGUSTUS trial.


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