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Mucopolysaccharidosis typeⅢB:a current review and exploration of the AAV therapy landscape

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Neural Regeneration Research 2024年第2期19卷 355-359页

作者： Courtney J.Rouse Victoria N.Jensen Coy D.Heldermon Lacerta therapeutics AlachuaFLUSA University of Florida College of Medicine GainesvilleFLUSA

Mucopolysaccharidoses typeⅢB is a rare genetic disorder caused by mutations in the gene that encodes for *** results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive and severe debilitating neurological *** treatment options are expensive,limited,and presently there are no approved cures for mucopolysaccharidoses typeⅢ***-associated virus gene therapy has significantly advanced the field forward,allowing researchers to successfully design,enhance,and improve potential *** group recently published an effective treatment using a codon-optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha-glucosaminidase levels,auditory function,and lifespan in the murine model for mucopolysaccharidoses typeⅢB to that seen in healthy ***,we review the current state of the field in relation to the capsid landscape,adeno-associated virus gene therapy and its successes and challenges in the clinic,and how novel adenoassociated virus capsid designs have evolved research in the mucopolysaccharidoses typeⅢB field.

关键词： adeno-associated virus central nervous system gene therapy heparan sulfate immune response mucopolysaccharidoses type IIIB N-acetyl-alpha-glucosaminidase newborn screening

Interaction between inflammatory bowel disease,physical activity,and myokines:Assessment of serum irisin levels

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World Journal of Gastroenterology 2024年第22期30卷 2923-2926页

作者： Marwan SM Al-Nimer Department of therapeutics and Clinical Pharmacology College of MedicineUniversity of DiyalaBaqubah 32001Iraq

Inflammatory bowel disease(IBD),including Crohn’s disease and ulcerative colitis,showed a wide spectrum of intestinal and extra-intestinal manifestations,which rendered the patients physically inactive and impaired their quality of *** has been found that physical activity is a non-pharmacological intervention that improves the quality of life for those *** is one member of the myokines secreted by muscle contraction during exercise and could be used as an antiinflammatory biomarker in assessing the physical activity of IBD *** addition,experimental studies showed that exogenous irisin significantly decreased the inflammatory markers and the histological changes of the intestinal mucosa observed in experimental ***,irisin produces changes in the diversity of the ***,endogenous or exogenous irisin,via its anti-inflammatory effects,will improve the health of IBD patients and will limit the barriers to physical activity in patients with IBD.

关键词： Irisin Inflammatory bowel disease Physical activity Myokines Prognostic marker

NLRP3 inflammasome plays a vital role in the pathogenesis of age-related diseases in the eye and brain

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Neural Regeneration Research 2024年第7期19卷 1425-1426页

作者： Jack Jonathan Maran Odunayo Omolola Mugisho Buchanan Ocular therapeutics Unit Department of OphthalmologyNew Zealand National Eye CentreUniversity of AucklandAucklandNew Zealand

Key points:With aging,there is increased nucleotide-binding oligomerization domain-(NOD-)like receptor(NLR) protein-3(NLRP3) activation in neural and ocular *** of the NLRP3 inflammasome appears to be a common denominator in the pathogenesis of age-related diseases of the eye and *** inhibition of the NLRP3 inflammasome may be a potent therapy for preventing the development and progression of age-related eye and brain diseases.

关键词： NLRP3 pathogenesis inflam

Current and future trends in whole genome sequencing in cancer

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Cancer Biology & Medicine 2024年第1期21卷 16-20页

作者： Yuki Katsuya Department of Experimental therapeutics National Cancer Center Hospital5-1-1 TsukijiChuo-kuTokyo 104-0045Japan

Cancer remains a formidable global health challenge affecting millions of lives *** decades,conventional cancer treatments used a one-size-fits-all approach,overlooking the intricate genetic variations that drive *** emergence of cancer genomics has ushered in a new era of personalized and targeted cancer *** Human Genome Project,which was launched in 1990 and completed in 2003。

关键词： cancer Cancer annually

Characteristics of patients with Wilson disease in the United States: An insurance claims database study

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World Journal of Hepatology 2024年第5期16卷 791-799页

作者： Thomas Daniel-Robin Pradeep Kumar Bernard Benichou Jean-Philippe Combal Vivet therapeutics Paris 75008France Clarivate Noida 201301Uttar PradeshIndia

BACKGROUND Wilson disease(WD)is a progressive,potentially fatal degenerative disease affecting the liver and central nervous *** its low prevalence,collecting data on large cohorts of patients with WD is *** insur-ance claims databases provide powerful tools to collect retrospective data on large numbers of patients with rare *** To describe patients with WD in the United States,their treatment and clinical outcome,using a large insurance claims *** This retrospective,longitudinal study was performed in the Clarivate Real-World Data Product *** patients with≥2 claims associated with an Interna-tional Classification of Diseases 10(ICD-10)diagnostic code for WD(E83.01)between 2016 and 2021 were included and followed until death or study *** were divided into two groups by whether or not they were documented to have received a specific treatment for *** manifestations,hospital-isations,liver transplantation and death were *** Overall,5376 patients with an ICD-10 diagnostic code for WD were *** mean age at inclusion was 41.2 years and 52.0%were men.A specific WD treatment was documented for 885 patients(15.1%),although the number of patients taking zinc salts may be underestimated due to over the counter *** inclusion,the mean age of patients with a documented treatment was 36.6±17.8 years vs 42.2±19.6 years in those without a documented *** follow-up,273 patients(5.1%)*** with the American general population,the standardised mortality ratio was *** proportion of patients with a documented WD-specific treatment who died during follow-up was 4.0%and the mean age at death 52.7 *** Patients treated for WD in the United States had an excess early mortality compared with the American *** findings indicate that there is a significant unmet need for effective treatment for WD in the United States.

关键词： Wilson disease Mortality Treatment Copper chelators Zinc acetate United States

K^(+)/Cl^(−) co-transporter-2 upmodulation: a multi-modal therapy to treat spinal cord injury

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Neural Regeneration Research 2022年第9期17卷 1984-1986页

作者： Shane V.Hegarty Joanna Stanicka axonis therapeutics Inc.LabCentralCambridgeMAUSA

Herein,the rationale and supporting evidence for the promise of developing K+/Cl−co-transporter-2(KCC2)neuromodulatory therapies for spinal cord injury(SCI)is *** is commonly a life-changing,unforeseen neuro t rauma that has devastating consequences for the injured person,their families and society as a *** less than 1%of patients have a complete recovery,the vast majority of people after SCI have significant disabilities and can be entirely dependent upon others for assistance in their activities of daily *** socioeconomic costs are a significant global burden,with SCI often occurring in adults during their peak earning ***,there are no approved drugs that improve functional outcomes for people with ***,SCI commonly leads to a lifetime of disability,and new therapeutic approaches are urgently needed.

关键词： injury modal consequences

Skeletal muscle as a molecular and cellular biomarker of disease progression in amyotrophic lateral sclerosis:a narrative review

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Neural Regeneration Research 2024年第4期19卷 747-753页

作者： Peter H.King Department of Neurology and Center for Neurodegeneration and Experimental therapeutics The University of Alabama at BirminghamBirminghamALUSA Birmingham Veterans Affairs Medical Center BirminghamALUSA

Amyotrophic lateral sclerosis is a fatal multisystemic neurodegenerative disease with motor neurons being a primary *** progressive weakness is a hallmark feature of amyotrophic lateral sclerosis,there is considerable heterogeneity,including clinical presentation,progression,and the underlying triggers for disease *** on longitudinal studies with families harboring amyotrophic lateral sclerosis-associated gene mutations,it has become apparent that overt disease is preceded by a prodromal phase,possibly in years,where compensatory mechanisms delay symptom *** 85-90%of amyotrophic lateral sclerosis is sporadic,there is a strong need for identifying biomarkers that can detect this prodromal phase as motor neurons have limited capacity for *** Food and Drug Administration-approved therapies work by slowing the degenerative process and are most effective early in the *** muscle,including the neuromuscular junction,manifests abnormalities at the earliest stages of the disease,before motor neuron loss,making it a promising source for identifying biomarkers of the prodromal *** accessibility of muscle through biopsy provides a lens into the distal motor system at earlier stages and in real *** advent of“omics”technology has led to the identification of numerous dysregulated molecules in amyotrophic lateral sclerosis muscle,ranging from coding and non-coding RNAs to proteins and *** technology has opened the door for identifying biomarkers of disease activity and providing insight into disease mechanisms.A major challenge is correlating the myriad of dysregulated molecules with clinical or histological progression and understanding their relevance to presymptomatic phases of *** are two major goals of this *** first is to summarize some of the biomarkers identified in human amyotrophic lateral sclerosis muscle that have a clinicopathological correlation with disease activi

关键词： amyotrophic lateral sclerosis biomarkers clinicopathological correlation disease progression muscle biomarkers neurogenic atrophy neuromuscular junction non-coding RNAs presymptomatic stages skeletal muscle SOD1G93A mouse model

Molecular regulation of calcium-sensing receptor(CaSR)-mediated signaling

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Chronic Diseases and Translational Medicine 2024年第3期10卷 167-194页

作者： Li Tian Corey Andrews Qiuyun Yan Jenny J.Yang Department of Chemistry Center for Diagnostics and TherapeuticsAdvanced Translational Imaging FacilityGeorgia State UniversityAtlantaGeorgiaUSA

Calcium-sensing receptor(CaSR),a family C G-protein-coupled receptor,plays a crucial role in regulating calcium homeostasis by sensing small concentration changes of extracellular Ca^(2+),Mg^(2+),amino acids(e.g.,L-Trp and L-Phe),small peptides,anions(e.g.,HCO_(3)^(-)and PO_(4)^(3-)),and ***-mediated intracellular Ca^(2+)signaling regulates a diverse set of cellular processes including gene transcription,cell proliferation,differentiation,apoptosis,muscle contraction,and neuronal *** of CaSR with mutations results in diseases such as autosomal dominant hypocalcemia,familial hypocalciuric hypercalcemia,and neonatal severe *** also influences calciotropic disorders,such as osteoporosis,and noncalciotropic disorders,such as cancer,Alzheimer's disease,and pulmonary arterial *** study first reviews recent advances in biochemical and structural determination of the framework of CaSR and its interaction sites with natural ligands,as well as exogenous positive allosteric modulators and negative allosteric *** establishment of the first CaSR protein-protein interactome network revealed 94 novel players involved in protein processing in endoplasmic reticulum,trafficking,cell surface expression,endocytosis,degradation,and signaling *** roles of these proteins in Ca^(2+)-dependent cellular physiological processes and in CaSR-dependent cellular signaling provide new insights into the molecular basis of diseases caused by CaSR mutations and dysregulated CaSR activity caused by its protein interactors and facilitate the design of therapeutic agents that target CaSR and other family C G-protein-coupled receptors.

关键词： calcium signaling calcium-sensing receptor G-protein-coupled receptors structure trafficking

Probiotics intervention in colorectal cancer:From traditional approaches to novel strategies

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Chinese Medical Journal 2024年第1期137卷 8-20页

作者： Suki Ha Xiang Zhang Jun Yu Institute of Digestive Disease and Department of Medicine and therapeutics State Key Laboratory of Digestive DiseaseLi Ka Shing Institute of Health SciencesThe Chinese University of Hong KongHong Kong SARChina

The intestine harbors a large population of microorganisms that interact with epithelial cells to maintain host healthy physiological *** intestinal microbiota engage in the fermentation of non-digestible nutrients and produce beneficial metabolites to regulate host homeostasis,metabolism,and immune *** disruption of microbiota,known as dysbiosis,has been implicated in many intestinal diseases,including colorectal cancer(CRC).As the third most common cancer and the second leading cause of cancer-related death worldwide,CRC poses a significant health *** is an urgent need for novel interventions to reduce CRC incidence and improve clinical *** the intestinal microbiota has emerged as a promising approach for CRC prevention and *** research efforts in CRC probiotics primarily focus on reducing the incidence of CRC,alleviating treatment-related side effects,and potentiating the efficacy of anticancer therapy,which is the key to successful translation to clinical *** paper aims to review the traditional probiotics and new interventions,such as next-generation probiotics and postbiotics,in the context of *** underlying mechanisms of probiotic anti-cancer effects are also discussed,including the restoration of microbial composition,reinforcement of gut barrier integrity,induction of cancer cell apoptosis,inactivation of carcinogens,and modulation of host immune *** paper further evaluates the novel strategy of probiotics as an adjuvant therapy in boosting the efficacy of chemotherapy and *** all the promising findings presented in studies,the evaluation of potential risks,optimization of delivery methods,and consideration of intra-patient variability of gut microbial baseline must be thoroughly interpreted before bench-to-bedside translation.

关键词： colorectal cancer probiotics gut microbiota dysbiosis adjuvant therapy immune modulation gut barrrier