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Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
March 2023
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
January 2023
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by biallelic mutations in the lysosomal trafficking regulator (LYST) gene. Even though enlarged lysosomes and/or lysosome-related organelles (LROs) are the typical cellular hallmarks of CHS, they have not been investigated in human neuronal models. Moreover, how and why the loss of LYST function causes a lysosome phenotype in cells has not been elucidated.
View Article and Find Full Text PDFRare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
J Parkinsons Dis
January 2022
Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: Genetic studies have indicated that variants in several lysosomal genes are risk factors for idiopathic Parkinson's disease (PD). However, the role of lysosomal genes in PD in Asian populations is largely unknown.
Objective: This study aimed to analyze rare variants in lysosomal related genes in Chinese population with early-onset and familial PD.
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
Int J Dermatol
March 2016
Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
Chediak-Higashi syndrome (CHS; OMIM no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. CHS generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood.
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