Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

This book covers the molecular structures and the cellular and in vivo function of endosomes and lysosomes, i.e. intracellular vesicles which are involved in many cellular processes such as endocytosis, intracellular trafficking, degradation of material from inside (e.g. autophagy) and outside the cell as well as exocytosis. Membranes of endolysosomal organelles contain an amazing number and diversity of ion channels. These ion channels are the topic of the present book that focusses on describing the structure, the biophysical properties, physiological functions of endolysosomal ion channels at the molecular, cellular and in vivo level. .

Histology. Cytology --- Biology --- History of human medicine --- Human physiology --- farmacologie --- biologie --- fysiologie --- cytologie --- histologie --- Endosomes. --- Ion channels. --- Lysosomes.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Lysosomes are membrane-surrounded organelles which are present in all animal cells. The importance of this organelle is underlined by an increasing number of human diseases, which are associated with an impaired function of the lysosomal compartment. This book summarizes the current state-of-the art knowledge about this unique organelle. It addresses the biogenesis of this compartment, the transport of lysosomal proteins, the role of the lysosomal membrane in lysosomal stability and transport, the function of lysosomal proteases and hydrolases, lysosomal storage disorders, and new concepts on how to treat these diseases. In addition to these classical topics, new insights into lysosomal functions are covered by chapters dealing with specialized lysosomes involved in bone resorption and plasma membrane repair, the lysosomal transciptome, and proteome and the emerging role of lysosomes in special forms of autophagy. This book will provide readers with a comprehensive overview into how this fascinating organelle works and how research in the field is developing.

Lysosomes. --- Cell organelles --- Cytology. --- Biochemistry. --- Human genetics. --- Neurosciences. --- Cell Biology. --- Biochemistry, general. --- Human Genetics. --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Nervous system --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Cell biology --- Cellular biology --- Cells --- Cytologists --- Composition --- Cell biology.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

Lysosomal storage diseases -- Pathogenesis. --- Lysosomal storage diseases -- Treatment. --- Lysosomal storage diseases. --- Lysosomal storage diseases --- Proteins --- Sphingolipidoses --- Cytoplasmic Vesicles --- Metabolic Phenomena --- Genetic Diseases, X-Linked --- Lysosomal Storage Diseases, Nervous System --- Organelles --- Genetic Diseases, Inborn --- Lipidoses --- Phenomena and Processes --- Fabry Disease --- Metabolism --- Lysosomes --- Lysosomal Storage Diseases --- Brain Diseases, Metabolic, Inborn --- Lipid Metabolism, Inborn Errors --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Lipid Metabolism Disorders --- Cytoplasmic Structures --- Metabolism, Inborn Errors --- Brain Diseases, Metabolic --- Diseases --- Cytoplasm --- Metabolic Diseases --- Nutritional and Metabolic Diseases --- Intracellular Space --- Brain Diseases --- Central Nervous System Diseases --- Cellular Structures --- Nervous System Diseases --- Cells --- Anatomy --- Medicine --- Health & Biological Sciences --- Metabolic & Nutritional Diseases --- Disorders --- Disorders. --- Protein metabolism disorders --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Medicine. --- Human genetics. --- Metabolic diseases. --- Medicine & Public Health. --- Metabolic Diseases. --- Human Genetics. --- Metabolism, Inborn errors of --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Alzheimer’s disease (AD) represents the most common form of dementia in the elderly population worldwide. AD is characterized by progressive neurodegeneration that leads to a gradual deterioration of memory and other cognitive functions. Given the global prevalence and impact of AD, there is a critical need to establish biomarkers that can be used to detect AD in individuals before the onset of clinical signs and provide mitigating therapeutics. The aim of this Special Issue is to discuss the current knowledge as well as future perspectives on the role of biomarkers in the screening, diagnosis, treatment and follow-up of AD.

flotillin --- Alzheimer’s disease --- biomarker --- exosomes --- beta-amyloid --- Tau --- aging --- biomarkers --- cytokines --- cognitive decline --- metabolomics --- neuroinflammation --- multivariate analysis --- physical performance --- person-tailored --- PET/CT --- (18F)FDG --- neuropsychological assessment --- APP mutations --- APOE alleles --- PSEN1 --- PSEN2 --- germline mutations --- late onset AD --- early onset AD --- familial AD --- genetics of AD --- mitochondrial spare respiratory capacity --- mitochondrial --- membrane potential --- glycolytic reserve --- semantic memory --- phonemic fluency --- episodic memory --- neuropsychology --- neuroimaging --- Alzheimer's disease --- mild cognitive impairment --- EEG --- TMS --- obesity --- diabetes --- inflammation --- Amyloid Beta --- mitochondrial dysfunction --- nutrition --- omega-3 fatty acids --- antioxidant --- carotenoids --- vitamin E --- cognition --- older adults --- ageing --- subjective cognitive decline --- clock genes --- Clock --- ApoE --- cardiovascular risk factors --- Alzheimer disease --- semantic priming --- amyloid beta --- cerebrospinal fluid --- amyloid beta peptide --- total tau --- phosphorylated tau --- diagnosis --- drug development --- clinical trials --- diagnostic research --- virus --- bacteria --- dementia --- blood --- behavioral and psychological symptoms of dementia (BPSD) --- Alzheimer’s disease (AD) --- neuropsychiatry inventory scale (NPI) --- endophenotypes --- CART analysis --- MTHFR --- APOE --- COMT --- genetic variants --- early diagnosis --- biofluids --- amyloid cascade hypothesis --- glucose metabolism --- adipose tissue dysfunction --- energetic metabolism --- lysosomes dysfunction --- Type-3-Diabetes --- neurodegeneration --- amyloid --- tau --- soluble TREM2 --- NfL --- Multiplex --- SiMoA --- diagnostics --- messenger RNA --- microRNA --- neurotropic microbes --- precision medicine --- prognostics --- synaptic biomarkers --- neurofilament light chain --- n/a --- Alzheimer's disease (AD)