Ying Sun
YOU?
Author Swipe
View article: Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease
Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease Open
Neuronopathic Gaucher disease (nGD) is a lysosomal storage disorder caused by GBA1 mutations, leading to defective acid β-glucosidase (GCase) and accumulation of glycosphingolipid substrates, causing inflammation and neurodegeneration. Pat…
View article: Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment
Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment Open
Polycomb Repressive Complexes (PRCs) are known for chemically modifying histones to compact chromatin structure and repress transcription. Broadly speaking, PRC1 monoubiquitinates histone 2A at lysine 119 (H2AK119ub), and PRC2 methylates h…
View article: Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation
Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation Open
Gaucher disease type 1 is a lysosomal storage disorder caused by GBA1 mutations that reduce glucocerebrosidase activity, leading to glycolipid buildup, particularly in macrophages. To develop a curative approach, we established a high-effi…
View article: Study on the event-related potential in recognition of emotional words between typical “five-state personality”
Study on the event-related potential in recognition of emotional words between typical “five-state personality” Open
Objective: To explore the event-related potential (ERP) differences of people with typical traditional Chinese medicine (TCM) “five-state personality” in the task of judging the emotional attributes (positive, neutral, and negative) of Chi…
View article: Study on the event-related potential in recognition of emotional words between typical “five-state personality”
Study on the event-related potential in recognition of emotional words between typical “five-state personality” Open
Objective: To explore the event-related potential (ERP) differences of people with typical traditional Chinese medicine (TCM) “five-state personality” in the task of judging the emotional attributes (positive, neutral, and negative) of Chi…
View article: Total Iridoid Glycosides from Swertia mussotii Franch. Alleviate Cholestasis Induced by α-Naphthyl Isothiocyanate through Activating the Farnesoid X Receptor and Inhibiting Oxidative Stress
Total Iridoid Glycosides from Swertia mussotii Franch. Alleviate Cholestasis Induced by α-Naphthyl Isothiocyanate through Activating the Farnesoid X Receptor and Inhibiting Oxidative Stress Open
Cholestasis refers to a physiological and pathological process caused by bile acid (BA) overaccumulation inside the circulatory system and liver, leading to systemic and hepatocellular damage. Activating the farnesol X receptor (FXR) to re…
View article: The potential roles of HIF-1α in epithelial-mesenchymal transition and ferroptosis in tumor cells
The potential roles of HIF-1α in epithelial-mesenchymal transition and ferroptosis in tumor cells Open
In tumors, the rapid proliferation of cells and the imperfect blood supply system lead to hypoxia, which can regulate the adaptation of tumor cells to the hypoxic environment through hypoxia-inducible factor-1α (HIF-1α) and promote tumor d…
View article: Intrinsic link between PGRN and <i>Gba1</i> D409V mutation dosage in potentiating Gaucher disease
Intrinsic link between PGRN and <i>Gba1</i> D409V mutation dosage in potentiating Gaucher disease Open
Gaucher disease (GD) is caused by biallelic GBA1/Gba1 mutations that encode defective glucocerebrosidase (GCase). Progranulin (PGRN, encoded by GRN/Grn) is a modifier of GCase, but the interplay between PGRN and GCase, specifically GBA1/Gb…
View article: iPSC-derived neural precursor cells engineering GBA1 recovers acid β-glucosidase deficiency and diminishes α-synuclein and neuropathology
iPSC-derived neural precursor cells engineering GBA1 recovers acid β-glucosidase deficiency and diminishes α-synuclein and neuropathology Open
Mutations in GBA1, encoding the lysosomal acid β-glucosidase (GCase), cause neuronopathic Gaucher disease (nGD) and promote Parkinson disease (PD). The mutations on GBA1 include deletion and missense mutations that are pathological and lea…
View article: Investigating the shared genetic architecture between schizophrenia and obesity
Investigating the shared genetic architecture between schizophrenia and obesity Open
Evidence for reciprocal comorbidity of schizophrenia (SCZ) and obesity (OB) has grown in recent years. However, little is known regarding the shared genetic architecture or causality underlying the phenotypic association between SCZ and OB…
View article: PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, <i>GBA1</i> mutation-associated pathologies and diseases
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, <i>GBA1</i> mutation-associated pathologies and diseases Open
Mutations in GBA1 , encoding glucocerebrosidase (GCase), cause Gaucher disease (GD) and are also genetic risks in developing Parkinson’s disease (PD). Currently, the approved therapies are only effective for directly treating visceral symp…
View article: Treatment of a genetic brain disease by CNS-wide microglia replacement
Treatment of a genetic brain disease by CNS-wide microglia replacement Open
Hematopoietic cell transplantation after myeloablative conditioning has been used to treat various genetic metabolic syndromes but is largely ineffective in diseases affecting the brain presumably due to poor and variable myeloid cell inco…
View article: Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice
Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice Open
Neurodegenerative diseases are debilitating impairments that affect millions of people worldwide and are characterized by progressive degeneration of structure and function of the central or peripheral nervous system. Effective biomarkers …
View article: Identification of miRNA profile in the peripheral blood and clinical significance of miR-355 and miR-2911 expression in children with Kawasaki disease.
Identification of miRNA profile in the peripheral blood and clinical significance of miR-355 and miR-2911 expression in children with Kawasaki disease. Open
Expression levels of miR-355 and miR-2911 were significantly up-regulated in peripheral blood of children with Kawasaki disease. miR-355 and miR-2911 could serve as biomarkers for diagnosis of Kawasaki disease.
View article: Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease
Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease Open
Substrate reduction therapy (SRT) in clinic adequately manages the visceral manifestations in Gaucher disease (GD) but has no direct effect on brain disease. To understand the molecular basis of SRT in GD treatment, we evaluated the effica…
View article: Progranulin Associates With Rab2 and Is Involved in Autophagosome-Lysosome Fusion in Gaucher Disease
Progranulin Associates With Rab2 and Is Involved in Autophagosome-Lysosome Fusion in Gaucher Disease Open
Progranulin (PGRN) is a key regulator of lysosome and its deficiency has been linked to various lysosomal storage diseases (LSDs), including Gaucher disease (GD), one of the most common LSD. Here, we report that PGRN plays a previously unr…
View article: Association of Progranulin and Rab2 is required for autophagosome-lysosome fusion
Association of Progranulin and Rab2 is required for autophagosome-lysosome fusion Open
Progranulin (PGRN) is a key regulator of lysosome and its deficiency has been linked to various lysosomal storage diseases (LSDs), including Gaucher disease (GD), one of the most common LSD. Here, we report that PGRN plays a previously unr…
View article: Isolation and Multiple Differentiation of Rat Pericardial Fluid Cells
Isolation and Multiple Differentiation of Rat Pericardial Fluid Cells Open
Objective The aim of the present study is to isolate and analyze the characterization of pericardial fluid cells (PFCs) from rat and provides a morphological basis for the basic research and clinical application of PFCs. Methods After asep…
View article: Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Protein Affect Binding of ATP: a Combined Molecular Dynamics and Network Analysis Study
Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Protein Affect Binding of ATP: a Combined Molecular Dynamics and Network Analysis Study Open
Molecular dynamics (MD) simulations and residue interaction network analyses were carried out to investigate how some mutations on the human TRPV4 ankyrin repeating domain (ARD) change the ATP-binding strengths.Contact residue interaction …
View article: SeqEnhDL: sequence-based classification of cell type-specific enhancers using deep learning models
SeqEnhDL: sequence-based classification of cell type-specific enhancers using deep learning models Open
We propose SeqEnhDL, a deep learning framework for classifying cell type-specific enhancers based on sequence features. DNA sequences of “strong enhancer” chromatin states in nine cell types from the ENCODE project were retrieved to build …
View article: Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors
Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors Open
Sphingolipids (SphLs) are a diverse class of molecules that are regulated by a complex network of enzymatic pathways. A disturbance in these pathways leads to lipid accumulation and initiation of several SphL-related disorders. Acid cerami…