15,020 results match your criteria: "University Medical Center Charité and Max-Delbrück-Center for Molecular Medicine[Affiliation]"

Background: Huntington disease (HD) is a progressive neurodegenerative disease that causes psychiatric and neurological symptoms, including involuntary and irregular muscle movements (chorea). Chorea can disrupt activities of daily living, pose safety issues, and may lead to social withdrawal. The vesicular monoamine transporter 2 inhibitors tetrabenazine, deutetrabenazine, and valbenazine are approved treatments that can reduce chorea.

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MicroRNA in neuroexosome as a potential biomarker for HIV-associated neurocognitive disorders.

J Neurovirol

January 2025

Division of Infectious Diseases, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-Ku, Tokyo, 108-8639, Japan.

HIV-associated neurocognitive disorder (HAND) is a complication of chronic inflammation caused by HIV infection that impairs cognitive and motor functions. HAND can occur at any age, regardless of the duration of infection, even in people living with HIV (PLWH) whose blood viral load is controlled by antiretroviral therapy. The diagnosis of HAND requires a battery of neuropsychological tests, which is time-consuming and burdensome, limiting its effectiveness for screening PLWH.

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Objectives: The association between leisure-time physical activity (LTPA) and a lower risk of mortality is susceptible to bias from multiple sources. We investigated the potential of biological ageing to mediate the association between long-term LTPA and mortality and whether the methods used to account for reverse causality affect the interpretation of this association.

Methods: Study participants were twins from the older Finnish Twin Cohort (n = 22,750; 18-50 years at baseline).

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The American Academy of Pediatrics (AAP) health supervision guidelines for children with Down syndrome are important for preventative and symptom-based care. Studies, however, have shown low overall adherence to these care recommendations due to a lack of provider familiarity, inaccessibility of a medical home, and caregiver burden. In a population of children with Down syndrome, using a retrospective chart review, we evaluated overall patient adherence to the medical components of the 2011 AAP guidelines, along with potential influencing factors, to determine if there was a difference in adherence between those who had genetic counseling and those who had not.

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Transport and inhibition of the sphingosine-1-phosphate exporter SPNS2.

Nat Commun

January 2025

Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK.

Sphingosine-1-phosphate (S1P) is a signaling lysolipid critical to heart development, immunity, and hearing. Accordingly, mutations in the S1P transporter SPNS2 are associated with reduced white cell count and hearing defects. SPNS2 also exports the S1P-mimicking FTY720-P (Fingolimod) and thereby is central to the pharmacokinetics of this drug when treating multiple sclerosis.

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One key determinant of HIV-1 latency reversal is the activation of the viral long terminal repeat (LTR) by cellular transcription factors such as NF-κB and AP-1. Interestingly, the activity of these two transcription factors can be modulated by glucocorticoid receptors (GRs). Furthermore, the HIV-1 genome contains multiple binding sites for GRs.

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Exosomes as promising frontier approaches in future cancer therapy.

World J Gastrointest Oncol

January 2025

Department of Automatic Control Engineering, Feng Chia University, Taichung 407, Taiwan.

In this editorial, we will discuss the article by Tang published in the recent issue of the . They explored an innovative approach to enhancing gemcitabine (GEM) delivery and efficacy using human bone marrow mesenchymal stem cells (HU-BMSCs)-derived exosomes. The manufacture of GEM-loaded HU-BMSCs-derived exosomes (Exo-GEM) has been optimized.

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Delayed sleep-wake phase disorder involves chronic difficulty going to bed and waking up at conventional times and often co-occurs with depression. This study compared sleep and circadian rhythms between patients with delayed sleep-wake phase disorder with depression (DSWPD-D) and without (DSWPD-ND) comorbid depression. Clinical records of 162 patients with delayed sleep-wake phase disorder (70 DSWPD-D, 92 DSWPD-ND) were analysed, including a subset of 76 patients with circadian phase determined by the dim light melatonin onset.

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Research on pancreatic cancer has transformed with the advent of organoid technology, providing a better platform that closely mimics cancer biology in vivo. This review highlights the critical advancements facilitated by pancreatic organoid models in understanding disease progression, evaluating therapeutic responses, and identifying biomarkers. These three-dimensional cultures enable the proper recapitulation of the cellular architecture and genetic makeup of the original tumors, providing insights into the complex molecular and cellular dynamics at various stages of pancreatic ductal adenocarcinoma (PDAC).

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Autologous haematopoietic stem cell transplantation (AHSCT) is a treatment option for relapsing forms of multiple sclerosis (MS) that are refractory to disease-modifying therapy (DMT). AHSCT after failure of high-efficacy DMT in aggressive forms of relapsing-remitting MS is a generally accepted indication, yet the optimal placement of this approach in the treatment sequence is not universally agreed upon. Uncertainties also remain with respect to other indications, such as in rapidly evolving, severe, treatment-naive MS, progressive MS, and neuromyelitis optica spectrum disorder (NMOSD).

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Herpesviruses mimic zygotic genome activation to promote viral replication.

Nat Commun

January 2025

Institute of Virology, University Medical Center, and Faculty of Medicine, Albert-Ludwig-University Freiburg, Freiburg, Germany.

Zygotic genome activation (ZGA) is crucial for maternal to zygotic transition at the 2-8-cell stage in order to overcome silencing of genes and enable transcription from the zygotic genome. In humans, ZGA is induced by DUX4, a pioneer factor that drives expression of downstream germline-specific genes and retroelements. Here we show that herpesviruses from all subfamilies, papillomaviruses and Merkel cell polyomavirus actively induce DUX4 expression to promote viral transcription and replication.

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Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.

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Introduction: Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker.

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Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria.

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Aggregation of microtubule-associated tau protein is a distinct hallmark of several neurodegenerative disorders such as Alzheimer's disease (AD), dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP). Tau oligomers are suggested to be the primary neurotoxic species that initiate aggregation and propagate prion-like structures. Furthermore, different diseases are shown to have distinct structural characteristics of aggregated tau, denoted as polymorphs.

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The Warburg effect, which describes the fermentation of glucose to lactate even in the presence of oxygen, is ubiquitous in proliferative mammalian cells, including cancer cells, but poses challenges for biopharmaceutical production as lactate accumulation inhibits cell growth and protein production. Previous efforts to eliminate lactate production in cells for bioprocessing have failed as lactate dehydrogenase is essential for cell growth. Here, we effectively eliminate lactate production in Chinese hamster ovary and in the human embryonic kidney cell line HEK293 by simultaneous knockout of lactate dehydrogenases and pyruvate dehydrogenase kinases, thereby removing a negative feedback loop that typically inhibits pyruvate conversion to acetyl-CoA.

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Retinal Changes After Acute and Late Optic Neuritis in Aquaporin-4 Antibody Seropositive NMOSD.

J Neuroophthalmol

December 2024

Experimental and Clinical Research Center (FCO, HGZ, SM, CB, ESA, CC, FP, AUB), Max Delbrück Center for Molecular Medicine and Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; NeuroCure Clinical Research Center (FCO, HGZ, SM, CB, ESA, CC, FP, AUB), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Department of Neurology (AJG), University of California San Francisco, San Francisco, California; Neurology (RM, ACC), Multiple Sclerosis, Myelin Disorders and Neuroinflammation Pierre Wertheimer Neurological Hospital, Hospices Civils de Lyon, France; Centre d'Esclerosi Múltiple de Catalunya (Cemcat) (ACC), Department of Neurology/Neuroimmunology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Experimental Neurophysiology Unit (LL, MP, M. Radaelli), Institute of Experimental Neurology (INSPE) Scientific Institute, Hospital San Raffaele and University Vita-Salute San Raffaele, Milan, Italy; Hospital Clinic of Barcelona-Institut d'Investigacions (PV, BS-D, EHM-L), Biomèdiques August Pi Sunyer, (IDIBAPS), Barcelona, Spain; CIEM MS Research Center (MAL-P, MAF), University of Minas Gerais, Medical School, Belo Horizonte, Brazil; Department of Neurology (OA, M. Ringelstein, PA), Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany; Department of Neurology (M. Ringelstein), Centre for Neurology and Neuropsychiatry, LVR Klinikum, Heinrich Heine University Düsseldorf, Düsseldorf, Germany; Department of Medicine (MRY), Harbor-University of California at Los Angeles (UCLA) Medical Center, and Lundquist Institute for Biomedical Innovation, Torrance, California; Department of Medicine (MRY), David Geffen School of Medicine at UCLA, Los Angeles, California; Departments of Ophthalmology and Visual Sciences (TJS), Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan; Division of Metabolism, Endocrine and Diabetes (TJS, LC), Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan; Department of Neurology (FP), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; and Department of Neurology (AUB), University of California, Irvine, California.

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Docetaxel (DTX) is widely utilized in breast cancer treatment. However, cancer cell resistance has limited its anti-tumor efficacy. Some molecules called microRNAs (miRNAs), acting like fine-tuned switches, can influence how breast cancer develops and spreads.

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Aims: The gastrointestinal (GI) tract is composed of distinct sub-regions, which exhibit segment-specific differences in microbial colonization and (patho)physiological characteristics. Gut microbes can be collectively considered as an active endocrine organ. Microbes produce metabolites, which can be taken up by the host and can actively communicate with the immune cells in the gut lamina propria with consequences for cardiovascular health.

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Cheek swabs, heterogeneous samples consisting primarily of buccal epithelial cells, are widely used in pediatric DNA methylation studies and biomarker creation. However, the decrease in buccal proportion with age in adults remains unexamined in childhood. We analyzed cheek swabs from 4626 typically developing children 2-months to 20-years-old.

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Elevated MRPS23 expression facilitates aggressive phenotypes in breast cancer cells.

Cell Mol Biol (Noisy-le-grand)

January 2025

Department of Integrative Medicine, Huashan Hospital, Fudan University, Shanghai, China.

Mitochondrial ribosomal protein S23 (MRPS23), encoded by a nuclear gene, is a well-known driver of proliferation in cancer. It participates in mitochondrial protein translation, and its expression association has been explored in many types of cancer. However, MRPS23 expression associations are rarely reported in breast cancer (BC).

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Antibody-drug conjugates targeting SSEA-4 inhibits growth and migration of SSEA-4 positive breast cancer cells.

Cancer Lett

January 2025

Graduate Institute of Biomedical Sciences, China Medical University, Taichung, 406040, Taiwan; Institute of Biochemistry and Molecular Biology, China Medical University, Taichung, 406040, Taiwan. Electronic address:

Although breast cancer treatment has evolved significantly in recent years, drug resistance remains a major challenge. To identify new targets for breast cancer, we found that stage-specific embryonic antigen 4 (SSEA-4) is expressed in all subtypes of breast cancer cell lines, and the increased expression of the associated enzymes β3GalT5 and ST3Gal2 correlates with poor recurrence-free survival (RFS) in breast cancer. We also found that SSEA-4 antibodies can be rapidly internalized into breast cancer cells, a property that makes SSEA-4 an attractive target for antibody-drug conjugates (ADCs).

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Meat intake in relation to composition and function of gut microbiota.

Clin Nutr

January 2025

Molecular Epidemiology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden; Preventive Medicine Division, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, United States; School of Natural Sciences, Technology and Environmental Studies, Södertörn University Sweden, Sweden. Electronic address:

Objective: Meat intake is suggested to affect gut microbiome composition and the risk of chronic diseases. We aimed to identify meat-associated gut microbiome features and their association with host factors.

Design: Gut microbiota species were profiled by deep shotgun metagenomics sequencing in 9669 individuals.

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