Benjamin Liou
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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: 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: 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: 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: Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3
Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3 Open
There remain no approved therapies for rare but devastating neuronopathic glyocosphingolipid storage diseases, such as Sandhoff, Tay-Sachs, and Gaucher disease type 3. We previously reported initial optimization of the scaffold of eliglust…
View article: Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease Open
Gaucher disease (GD) is caused by GBA1 mutations leading to functional deficiency of acid-β-glucosidase (GCase). No effective treatment is available for neuronopathic GD (nGD). A subclass of neural stem and precursor cells (NPCs) expresses…
View article: Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice Open
Neuronopathic Gaucher disease (nGD) manifests as severe neurological symptoms in patients with no effective treatment available. Ryanodine receptors (Ryrs) are a family of calcium release channels on intracellular stores. The goal of this …
View article: Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease
Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease Open
To study the neuronal deficits in neuronopathic Gaucher Disease (nGD), the chronological behavioral profiles and the age of onset of brain abnormalities were characterized in a chronic nGD mouse model (9V/null). Progressive accumulation of…
View article: 521. Platelets Transfusion New Role as Brain Therapeutics for Acute Neuronopathic Gaucher Disease
521. Platelets Transfusion New Role as Brain Therapeutics for Acute Neuronopathic Gaucher Disease Open
There has no effective treatment for neuronopathic Gaucher Disease (nGD) due to the difficulty of therapeutics to cross the blood-brain-barrier. Platelets are blood elements that contain cytoplasmic secretory vesicles containing proteins i…
View article: Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model Open
Defective lysosomal acid β-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) that distress cellular functions. To study novel pathological mechanisms in neuronopathic Gaucher d…
View article: 374. Therapeutic Effect of Platelet Transfusions for Acute Neuronopathic Gaucher Disease
374. Therapeutic Effect of Platelet Transfusions for Acute Neuronopathic Gaucher Disease Open
Enzyme replacement therapy has led to resolution of most visceral manifestations in Gaucher disease (GD), but it is also limited by the instability of acid beta -glucosidase enzyme (GCase) in circulation, liver 1st bypass, and high cost. I…
View article: Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology
Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology Open
Gaucher disease (GD) is caused by insufficient activity of acid β-glucosidase (GCase) resulting from mutations in GBA1. To understand the pathogenesis of the neuronopathic GD, induced pluripotent stem cells (iPSCs) were generated from fibr…