[HTML][HTML] The role of brain barriers in fluid movement in the CNS: is there a 'glymphatic'system?
Brain fluids are rigidly regulated to provide stable environments for neuronal function, eg,
low K+, Ca 2+, and protein to optimise signalling and minimise neurotoxicity. At the same …
low K+, Ca 2+, and protein to optimise signalling and minimise neurotoxicity. At the same …
[HTML][HTML] The natural history of neurocognition in MPS disorders: a review
EG Shapiro, JB Eisengart - Molecular genetics and metabolism, 2021 - Elsevier
MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …
problems with attention and executive functions to progressive and degenerative …
[HTML][HTML] Mucopolysaccharidosis type I: a review of the natural history and molecular pathology
CS Hampe, JB Eisengart, TC Lund, PJ Orchard… - Cells, 2020 - mdpi.com
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease,
caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the …
caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the …
[HTML][HTML] Perivascular spaces, glymphatic system and MR
L Yu, X Hu, H Li, Y Zhao - Frontiers in Neurology, 2022 - frontiersin.org
The importance of the perivascular space (PVS) as one of the imaging markers of cerebral
small vessel disease (CSVD) has been widely appreciated by the neuroradiologists. The …
small vessel disease (CSVD) has been widely appreciated by the neuroradiologists. The …
[HTML][HTML] Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders
BW Bigger, DJ Begley, D Virgintino… - Molecular genetics and …, 2018 - Elsevier
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes,
leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG …
leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG …
[HTML][HTML] Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations—Neurological signs and symptoms
EG Shapiro, SA Jones, ML Escolar - Molecular genetics and metabolism, 2017 - Elsevier
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage
disorders, caused by mutations in lysosomal enzymes involved in the degradation of …
disorders, caused by mutations in lysosomal enzymes involved in the degradation of …
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …
[HTML][HTML] Sanfilippo syndrome: consensus guidelines for clinical care
N Muschol, R Giugliani, SA Jones, J Muenzer… - Orphanet Journal of …, 2022 - Springer
Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …
lysosomal storage disorders that is characterized by childhood dementia. The clinical …
[HTML][HTML] Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I
C Hinderer, P Bell, BL Gurda, Q Wang, JP Louboutin… - Molecular Therapy, 2014 - cell.com
Enzyme replacement therapy has revolutionized the treatment of the somatic manifestations
of lysosomal storage diseases (LSD), although it has been ineffective in treating central …
of lysosomal storage diseases (LSD), although it has been ineffective in treating central …
Mucopolysaccharidosis type I newborn screening: best practices for diagnosis and management
LA Clarke, AM Atherton, BK Burton… - The Journal of …, 2017 - jpeds.com
(GAG) metabolism caused by deficiency of enzymes responsible for lysosomal GAG
degradation. The accumulation of partially degraded GAG and the resulting disturbance of …
degradation. The accumulation of partially degraded GAG and the resulting disturbance of …