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Image Search Results
Journal: bioRxiv
Article Title: Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
doi: 10.1101/822890
Figure Lengend Snippet: MRI from the proband and mutational analysis of the arylsulfatase A (ARSA) gene in the family. (A) MRI from the proband (II-2). Magnetic resonance imaging (MRI) shows symmetrical deep lesions located in periventricular white matter, which was low signal in T1WI (a), high signal in T2WI (b), low signal in in T2WI (c) and ep2d (d) from the proband (II-2). (B) Pedigree of the family with MLD patients. The proband was shown in the second generation with the numbers II-2. The parents of proband are first generation with the number I-1 and I-2. The healthy older brother of proband is in the second generation with the number II-1. (C) Mutational analysis of the arylsulfatase A (ARSA) gene. Genotypes of the proband shows a homozygous c.925 G>A and a heterozygous c.925 G>A in his parents. Healthy brothers do not inherit this mutation. Nucleotide numbers are derived from cDNA ARSA sequences, GenBank accession numbers: NM_000487.5 and NP_000478.3.
Article Snippet: The human
Techniques: Magnetic Resonance Imaging, Mutagenesis, Derivative Assay
Journal: bioRxiv
Article Title: Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
doi: 10.1101/822890
Figure Lengend Snippet: Multiple sequence alignment (MSA) and 3D structure of ARSA. (A) Multiple sequence alignment showing the sequence alignment of a specific amino acid, and its conservation in other ARSA orthologs (across different species). Nucleotide numbers are derived from cDNA ARSA sequences, GenBank accession numbers: NM_000487.5 and NP_000478.3. (B) Conformational changes induced by the p.E309K and p.E309Q missense mutation in the ARSA protein. (C) Conformational changes induced by the p.E309*, this mutation results in early termination of codons and truncated proteins.
Article Snippet: The human
Techniques: Sequencing, Derivative Assay, Mutagenesis