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Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant.
Mol Genet Metab Rep
March 2025
Newborn Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China.
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the gene.
Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing.
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
View Article and Find Full Text PDFVPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Neurocase
January 2025
Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, P.R. China.
Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.
View Article and Find Full Text PDFRetrospective detection of ITGB7 gene mutation in a Holstein calf with chronic diarrhea that was suspected of hereditary cholesterol deficiency.
J Vet Med Sci
January 2025
Department of Veterinary Science, Obihiro University of Agriculture and Veterinary Medicine.
A homozygous individual for ITGB7 gene mutation, an autosomal recessive congenital disorder in Holstein cattle, was retrospectively identified by genotyping of 195 stored blood from patients less than 12 months of age. Other 24 patients (12.3%) showed heterozygous.
View Article and Find Full Text PDFBiallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.
J Genet Genomics
January 2025
Department of Medical Genetics and Center for Rare Diseases, the Second Affiliated Hospital of Zhejiang University School of Medicine, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang 310009, China; Nanhu Brain-computer Interface Institute, Hangzhou, Zhejiang 311100, China; MOE Frontier Science Center for Brain Research and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, China; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai 200031, China; Lead contact. Electronic address:
Hereditary spastic paraplegias (HSPs) refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons. To date, a significant number of patients still have not received a definite genetic diagnosis. Therefore, identifying unreported causative genes continues to be of great importance.
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