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Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

International journal of molecular sciences, 2020-10, Vol.21 (21), p.7819

2020

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Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2549, p.409

2022

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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

PloS one, 2015-08, Vol.10 (8), p.e0135873

2015

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Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

Movement disorders, 2012-03, Vol.27 (3), p.393-399

2012

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EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

Scientific reports, 2015-09, Vol.5 (1), p.13654-13654, Article 13654

2015

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Cholesterol Regulates Syntaxin 6 Trafficking at trans-Golgi Network Endosomal Boundaries

Cell reports (Cambridge), 2014-05, Vol.7 (3), p.883-897

2014

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Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome

Stem cell research, 2020-01, Vol.42, p.101668-101668, Article 101668

2020

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Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

International journal of molecular sciences, 2021-03, Vol.22 (7), p.3409

2021

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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Scientific reports, 2017-03, Vol.7 (1), p.44138-44138, Article 44138

2017

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A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Scientific reports, 2018-01, Vol.8 (1), p.694-6, Article 694

2018

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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100614-100614, Article 100614

2020

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Bone development and remodeling in metabolic disorders

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.133-144

2020

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Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.180-180, Article 180

2014

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Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Clinical genetics, 2020-02, Vol.97 (2), p.264-275

2020

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Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome

Stem cell research, 2019-12, Vol.41, p.101616-101616, Article 101616

2019

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Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

Stem cell reports, 2015-10, Vol.5 (4), p.546-557

2015

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Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease

The international journal of biochemistry & cell biology, 2014-09, Vol.54, p.245-254

2014

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Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Human mutation, 2009-07, Vol.30 (7), p.1117-1122

2009

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Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Human mutation, 2006-10, Vol.27 (10), p.1060-1060

2006

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Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Molecular genetics and metabolism, 2008-07, Vol.94 (3), p.305-312

2008

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Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.51-51, Article 51

2013

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Involvement of Gaucher Disease Mutations in Parkinson Disease

Current protein & peptide science, 2017-01, Vol.18 (7), p.758-764

2017

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Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of lipid research, 2007-10, Vol.48 (10), p.2275-2282

2007

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Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry

ChemMedChem, 2014-08, Vol.9 (8), p.1744-1754

2014

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Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.716-720

2012

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Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

Cholesterol Regulates Syntaxin 6 Trafficking at trans-Golgi Network Endosomal Boundaries

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

Bone development and remodeling in metabolic disorders

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

Involvement of Gaucher Disease Mutations in Parkinson Disease

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

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