Mucopolysaccharidosis III: Molecular basis and treatment

L Spahiu, E Behluli, B Peterlin, H Nefic… - Pediatric Endocrinology …, 2021 - termedia.pl
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by
mutation in the enzyme heparin sulfate, which normally leads to degradation and …

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

M De Risi, M Tufano, FG Alvino, MG Ferraro… - Nature …, 2021 - nature.com
Lysosomal storage disorders characterized by altered metabolism of heparan sulfate,
including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions …

Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB

R Petrova, AR Patil, V Trinh, KE McElroy, M Bhakta… - Scientific Reports, 2023 - nature.com
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-
onset lysosomal storage disease caused by complete loss of function of the lysosomal …

[HTML][HTML] An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA

AM Douek, M Amiri Khabooshan, J Henry… - International journal of …, 2021 - mdpi.com
Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric
neurological lysosomal storage disease, is caused by impaired function of the enzyme N …

Autistic feature as a presentation of inborn errors of metabolism

F Ahmadabadi, H Nemati… - Iranian journal of …, 2020 - pmc.ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders
characterized by social and communication impairment and restricted or repetitive …

[HTML][HTML] Synaptic alterations in a transgenic model of tuberous sclerosis complex: relevance to autism spectrum disorders

GA Czapski, L Babiec, H Jęśko… - International Journal of …, 2021 - mdpi.com
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease with serious
neurological and mental symptoms, including autism. Mutations in the TSC1/TSC2 genes …

Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice

AA Lau, K **, H Beard, T Windram, K **e… - Journal of …, 2024 - Wiley Online Library
Sanfilippo syndrome results from inherited mutations in genes encoding lysosomal enzymes
that catabolise heparan sulfate (HS), leading to early childhood‐onset neurodegeneration …

Serotonin 5-HT1A, 5-HT2A, and 5-HT7 Receptors in the Brain of the BTBR Mouse the Model of Autism

AY Rodnyy, EA Kulikova, EM Kondaurova… - Neurochemical …, 2021 - Springer
Autism spectrum disorders (ASD) are one of the major epidemiological problems for
humanity. Despite tremendous efforts undertaken by the scientific community, the …

[HTML][HTML] Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA

K Pericleous, C McIntyre, M Fuller - Molecular Genetics and Metabolism …, 2023 - Elsevier
Abstract Mucopolysaccharidosis type IIIA (MPS IIIA) is an inherited metabolic disorder
caused by a lysosomal enzyme deficiency resulting in heparan sulphate (HS) accumulation …

Safety and Efficacy of Genistein in Sanfilippo Syndrome-A Systematic Review

H Majid, M Masoom, MA Khan, A Garg - Current Drug Therapy, 2023 - benthamdirect.com
Background: Sanfilippo syndrome, commonly known as mucopolysaccharidosis type III
(MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the …