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Journal of Cutaneous Pathology, EarlyView.ABSTRACT Crystal‐storing histiocytosis (CSH) is a rare histopathologic phenomenon characterized by the accumulation of crystalline material within histiocytes, most often associated with lymphoplasmacytic or plasma cell neoplasms. Cutaneous involvement is uncommon and may present diagnostic challenges.
Liangli Wang +8 more
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Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina +2 more
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Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina +2 more
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Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease
International Journal of Molecular Sciences, 2020 The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes.
Shani Blumenreich +2 more
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Neuropathology and Applied Neurobiology, 1978
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
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The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
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Lysosomal Glycosphingolipid Storage Diseases
Annual Review of Biochemistry, 2019Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid–containing glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide.
Bernadette, Breiden, Konrad, Sandhoff
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Storage problems in lysosomal diseases
Biochemical Society Transactions, 2010Biochemical disorders in lysosomal storage diseases consist of the interruption of metabolic pathways involved in the recycling of the degradation products of one or several types of macromolecules. The progressive accumulation of these primary storage products is the direct consequence of the genetic defect and represents the initial pathogenic event.
Jean Michel, Heard +5 more
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Current Treatment Options in Neurology, 2001
Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Lysosomal Storage Diseases in Adults
Pathology - Research and Practice, 1994Most lysosomal storage disorders are known as pediatric diseases. In recent years late onset and adult forms of these disorders have been recognized. The adult form of a given lysosomal storage disorder differs from the childhood disease in several respects. Adult disorders are, with some exceptions, less common than the childhood diseases.
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Lysosomal Storage Diseases in Livestock
Veterinary Clinics of North America: Food Animal Practice, 1993Lysosomal storage diseases may be inherited or acquired. The former are usually inherited as autosomal traits, and heterozygotes may be identified by having enzyme activity levels approximately midway between normal and diseased values. Founder effect, enhanced by widespread acceptance of artificial breeding technologies, has been important in the ...
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[Lysosomes and lysosomal storage diseases].
Journal de la Societe de biologie, 2002Lysosomal storage disorders (LSDs) are monogenic inborn errors of metabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate, and new entities are still being identified. They are severe disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement, and ...
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