Lysosomal storage diseases
FM Platt, A d'Azzo, BL Davidson, EF Neufeld… - Nature reviews Disease …, 2018 - nature.com
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
Acid sphingomyelinase modulates the autophagic process by controlling lysosomal biogenesis in Alzheimer's disease
JK Lee, HK Jin, MH Park, B Kim, PH Lee… - Journal of Experimental …, 2014 - rupress.org
In Alzheimer's disease (AD), abnormal sphingolipid metabolism has been reported,
although the pathogenic consequences of these changes have not been fully characterized …
although the pathogenic consequences of these changes have not been fully characterized …
Lysosomal Ca2+ homeostasis: role in pathogenesis of lysosomal storage diseases
E Lloyd-Evans, FM Platt - Cell calcium, 2011 - Elsevier
Disrupted cellular Ca2+ signaling is believed to play a role in a number of human diseases
including lysosomal storage diseases (LSD). LSDs are a group of∼ 50 diseases caused …
including lysosomal storage diseases (LSD). LSDs are a group of∼ 50 diseases caused …
Lysosomal Ca2+ homeostasis and signaling in health and disease
E Lloyd-Evans, H Waller-Evans - Cold Spring Harbor …, 2020 - cshperspectives.cshlp.org
Calcium (Ca2+) signaling is an essential process in all cells that is maintained by a plethora
of channels, pumps, transporters, receptors, and intracellular Ca2+ sequestering stores …
of channels, pumps, transporters, receptors, and intracellular Ca2+ sequestering stores …
Lipid‐induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders
E Gabandé‐Rodríguez, A Pérez‐Cañamás… - The EMBO …, 2019 - embopress.org
Neuropathic lysosomal storage disorders (LSD s) present with activated pro‐inflammatory
microglia. However, anti‐inflammatory treatment failed to improve disease pathology. We …
microglia. However, anti‐inflammatory treatment failed to improve disease pathology. We …
Mesenchymal stem cell therapy and Alzheimer's disease: current status and future perspectives
J Kim, Y Lee, S Lee, K Kim, M Song… - Journal of Alzheimer's …, 2020 - content.iospress.com
Alzheimer's disease (AD) is the most common progressive neurodegenerative disease
worldwide, but its cause remains unclear. Although a few drugs can provide temporary and …
worldwide, but its cause remains unclear. Although a few drugs can provide temporary and …
Soluble CCL5 derived from bone marrow-derived mesenchymal stem cells and activated by amyloid β ameliorates Alzheimer's disease in mice by recruiting bone …
Microglia have the ability to eliminate amyloid β (Aβ) by a cell-specific phagocytic
mechanism, and bone marrow (BM) stem cells have shown a beneficial effect through …
mechanism, and bone marrow (BM) stem cells have shown a beneficial effect through …
From mice to men: lessons from mutant ataxic mice
J Cendelin - Cerebellum & ataxias, 2014 - Springer
Ataxic mutant mice can be used to represent models of cerebellar degenerative disorders.
They serve for investigation of cerebellar function, pathogenesis of degenerative processes …
They serve for investigation of cerebellar function, pathogenesis of degenerative processes …
Physiology of cerebellar reserve: Redundancy and plasticity of a modular machine
The cerebellum is endowed with the capacity for compensation and restoration after
pathological injury, a property known as cerebellar reserve. Such capacity is attributed to …
pathological injury, a property known as cerebellar reserve. Such capacity is attributed to …