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MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.
Expert Rev Mol Med
December 2024
Institute of Clinical Medicine Research, Suzhou Hospital, Affiliated Hospital of Medical School, Nanjing University, Lijiang Road No. 1, Suzhou 215153, China.
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and tumour progression. Mannosidase alpha class 2B member 1 (MAN2B1) is a lysosomal hydrolase from the α-mannosidase family.
View Article and Find Full Text PDFExome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.
Front Genet
August 2024
Department of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia.
Background: α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age.
View Article and Find Full Text PDFPrenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
Cureus
April 2024
Division of Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, SAU.
Alpha-mannosidosis is a rare lysosomal storage disorder with progressive impairments in motor functions, skeletal deformities, and immunodeficiency. Enzyme replacement therapy (ERT) should be initiated early to achieve optimal outcomes. This report describes how alpha-mannosidosis diagnosis in a seven-year-old girl led to a successful prenatal diagnosis in the subsequent pregnancy and pre-symptomatic treatment at the early disease stage.
View Article and Find Full Text PDFLong-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Eur J Med Genet
April 2024
Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey.
Background: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics.
View Article and Find Full Text PDFLevodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.
Mov Disord Clin Pract
August 2024
Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
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