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View article: Social Proof, Scarcity, and Discounts: Experimental Evidence on Digital Nudges in E-Commerce
Social Proof, Scarcity, and Discounts: Experimental Evidence on Digital Nudges in E-Commerce Open
The proliferation of digital nudges in e-commerce interfaces has reshaped consumer decision-making, yet their psychological mechanisms and societal implications remain contested, particularly in non-Western markets. This paper examines how…
View article: Genotype – phenotype correlation of Spinal Muscular Atrophy in the era of disease modifying therapies: A tertiary Indian experience
Genotype – phenotype correlation of Spinal Muscular Atrophy in the era of disease modifying therapies: A tertiary Indian experience Open
This study emphasizes the critical role of SMN2 as a disease modifier in SMA, as evidenced by its strong correlation with disease phenotype, motor scores, and the occurrence of co-morbidities. The findings underscore the importance of clos…
View article: Genetic therapies for movement disorders - current status
Genetic therapies for movement disorders - current status Open
View article: Neurodevelopmental and synaptic defects in <i>DNAJC6</i> parkinsonism, amenable to gene therapy
Neurodevelopmental and synaptic defects in <i>DNAJC6</i> parkinsonism, amenable to gene therapy Open
DNAJC6 encodes auxilin, a co-chaperone protein involved in clathrin-mediated endocytosis (CME) at the presynaptic terminal. Biallelic mutations in DNAJC6 cause a complex, early-onset neurodegenerative disorder characterized by rapidly prog…
View article: Mouse models for inherited monoamine neurotransmitter disorders
Mouse models for inherited monoamine neurotransmitter disorders Open
Several mouse models have been developed to study human defects of primary and secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to expand, current defects in corresponding mouse models include enzymes…
View article: Gene therapy for neurotransmitter‐related disorders
Gene therapy for neurotransmitter‐related disorders Open
Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous diseases with predominant neurological features, such as movement disorders, autonomic dysfunction, and developmental delay. Clinical overlap with other di…
View article: Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches
Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches Open
Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene. Advances in genomic analysis have reveale…
View article: Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases Open
Neurological disorders encompass a broad range of neurodegenerative and neurodevelopmental diseases that are complex and almost universally without disease modifying treatments. There is, therefore, significant unmet clinical need to devel…
View article: Genomic investigations of unexplained acute hepatitis in children
Genomic investigations of unexplained acute hepatitis in children Open
View article: Supplementary Figures 1 - 5 from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Figures 1 - 5 from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 1008KB, mRNA and protein expression of Api5 in TC-1/P0 and TC-1/P3 A17 cells (S1). Api5 expression in murine tumors and their immune resistance (S2). In vitro Generation and Characterization of KKM MART1-specific CTL clone (S3).…
View article: Data from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Data from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
Identifying immune escape mechanisms used by tumors may define strategies to sensitize them to immunotherapies to which they are otherwise resistant. In this study, we show that the antiapoptotic gene API5 acts as an immune escape g…
View article: Data from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Data from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
Identifying immune escape mechanisms used by tumors may define strategies to sensitize them to immunotherapies to which they are otherwise resistant. In this study, we show that the antiapoptotic gene API5 acts as an immune escape g…
View article: Supplementary Methods from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Methods from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 207KB
View article: Supplementary Figure Legends from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Figure Legends from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 97KB
View article: Supplementary Figure Legends from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Figure Legends from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 97KB
View article: Supplementary Figures 1 - 5 from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Figures 1 - 5 from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 1008KB, mRNA and protein expression of Api5 in TC-1/P0 and TC-1/P3 A17 cells (S1). Api5 expression in murine tumors and their immune resistance (S2). In vitro Generation and Characterization of KKM MART1-specific CTL clone (S3).…
View article: Supplementary Methods from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway
Supplementary Methods from API5 Confers Tumoral Immune Escape through FGF2-Dependent Cell Survival Pathway Open
PDF file - 207KB
View article: The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders Open
Background and Objective The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early‐onset, monogenic hyperkinetic movement disorders. Methods Patients were recruited from 14…
View article: Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism Open
Viral vectors restore dopamine transporter function and ameliorate neuropathology in iPSC-derived neurons and a mouse model of infantile parkinsonism.
View article: Viral gene therapy for paediatric neurological diseases: progress to clinical reality
Viral gene therapy for paediatric neurological diseases: progress to clinical reality Open
In the era of genomic medicine, diagnoses of rare paediatric neurological diseases are increasing. Many are untreatable and life‐limiting, leading to an exceptional increase in gene therapy development. It is estimated that 20 gene therapy…
View article: Immunomodulation in Administration of rAAV: Preclinical and Clinical Adjuvant Pharmacotherapies
Immunomodulation in Administration of rAAV: Preclinical and Clinical Adjuvant Pharmacotherapies Open
Recombinant adeno-associated virus (rAAV) has attracted a significant research focus for delivering genetic therapies to target cells. This non-enveloped virus has been trialed in many clinical-stage therapeutic strategies but important ob…
View article: Aromatic <scp>l</scp>-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
Aromatic <span>l</span>-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies Open
Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often …
View article: <i>ATP1A3</i>‐related neurological disorders and cerebellar ataxia in childhood
<i>ATP1A3</i>‐related neurological disorders and cerebellar ataxia in childhood Open
This commentary is on the case series by Sasaki et al. on pages 111–115 of this issue.
View article: <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>
<span><i>DNAJC6</i></span> Mutations Disrupt Dopamine Homeostasis in Juvenile <span>Parkinsonism‐Dystonia</span> Open
Background Juvenile forms of parkinsonism are rare conditions with onset of bradykinesia, tremor and rigidity before the age of 21 years. These atypical presentations commonly have a genetic aetiology, highlighting important insights into …
View article: Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Open
View article: Cervical Gene Delivery of the Antimicrobial Peptide, Human β-Defensin (HBD)-3, in a Mouse Model of Ascending Infection-Related Preterm Birth
Cervical Gene Delivery of the Antimicrobial Peptide, Human β-Defensin (HBD)-3, in a Mouse Model of Ascending Infection-Related Preterm Birth Open
Approximately 40% of preterm births are preceded by microbial invasion of the intrauterine space; ascent from the vagina being the most common pathway. Within the cervical canal, antimicrobial peptides and proteins (AMPs) are important com…
View article: Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors
Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors Open
We have previously designed a library of lentiviral vectors to generate somatic-transgenic rodents to monitor signalling pathways in diseased organs using whole-body bioluminescence imaging, in conscious, freely moving rodents. We have now…
View article: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders Open
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly conf…
View article: Cervical gene delivery of the antimicrobial peptide, Human β-defensin (HBD)-3, in a mouse model of ascending infection-related preterm birth
Cervical gene delivery of the antimicrobial peptide, Human β-defensin (HBD)-3, in a mouse model of ascending infection-related preterm birth Open
Approximately 40% of preterm births are preceded by microbial invasion of the intrauterine space: ascent from the vagina is the most common pathway. Within the cervical canal, antimicrobial peptides and proteins (AMPs) help to constitute a…
View article: Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease Open
Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here: