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3 results on '"I L, Hofman"'

1. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Author

H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, and A M, O'Rawe

Subjects
Male, Neurons, Genotype, DNA Mutational Analysis, Exons, Sequence Analysis, DNA, Cytoplasmic Granules, Polymerase Chain Reaction, Europe, Genetic Heterogeneity, Neuronal Ceroid-Lipofuscinoses, North America, Humans, Point Mutation, Female, Lymphocytes, RNA, Messenger, Thiolester Hydrolases, Age of Onset, Child, Alleles
Abstract

A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence supporting linkage of this phenotype, designated vJNCL/GROD, to the INCL region of chromosome 1p32 was demonstrated (pairwise lod score with D1S211 , Z max = 2.63, straight theta = 0.00). The INCL gene, palmitoyl-protein thioesterase (PPT ; CLN1), was therefore screened for mutations in 11 vJNCL/GROD families. Five mutations in the PPT gene were identified: three missense mutations, Thr75Pro, Asp79Gly, Leu219Gln, and two nonsense mutations, Leu10STOP and Arg151STOP. The missense mutation Thr75Pro accounted for nine of the 22 disease chromosomes analysed and the nonsense mutation Arg151STOP for seven. Nine out of 11 patients were shown to combine a missense mutation on one disease chromosome with a nonsense mutation on the other. Mutations previously identified in INCL were not observed in vJNCL/GROD families. Thioesterase activity in peripheral blood lymphoblast cells was found to be markedly reduced in vJNCL/GROD patients compared with controls. These results demonstrate that this subtype of JNCL is allelic to INCL and further emphasize the correlation which exists between genetic basis and ultrastructural changes in the NCLs.

Published
1998

2. Observations in institutionalized neuronal ceroid-lipofuscinosis patients with special reference to involuntary movements

Author

I. L. Hofman

Subjects
Involuntary movement, Adult, medicine.medical_specialty, Movement Disorders, Adolescent, business.industry, Encephalopathy, Infantile neuronal ceroid lipofuscinosis, Institutionalization, medicine.disease, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Internal medicine, Genetics, medicine, Humans, Neuronal ceroid lipofuscinosis, business, Child, Neuroscience, Genetics (clinical)
Published
1993

3. Antigenic polysaccharides of bacteria IV. Structure of the repeating unit of the polysaccharide chain of Shigella dysenteriae type 3 lipopolysaccharide

Author

I. L. Hofman, N. K. Kochetkov, Vyacheslav L. L'vov, and Boris A. Dmitriev

Subjects
chemistry.chemical_classification, chemistry.chemical_compound, Shigella dysenteriae, Lipopolysaccharide, chemistry, biology, Antigen, Chain (algebraic topology), General Chemistry, biology.organism_classification, Polysaccharide, Bacteria, Microbiology
Abstract

The complete structure of the repeating unit of a specific polysaccharide chain of an antigenic liposaccharide of bacteriaShigella dysenteriae Type 3, has been established.

Published
1977

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