Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II)

1979 ◽  
Vol 47 (3) ◽  
pp. 305-317 ◽  
Author(s):  
A. F. Van Elsen ◽  
J. G. Leroy
Keyword(s):  
Cell Disease ◽  
Mucolipidosis Ii

scholarly journals Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts

1986 ◽  
Vol 237 (1) ◽  
pp. 9-15 ◽  
Author(s):  
F Tietze ◽  
L H Rome ◽  
J D Butler ◽  
G S Harper ◽  
W A Gahl
Keyword(s):  
Mutant Cell ◽  
Cell Types ◽  
Nephropathic Cystinosis ◽  
Cell Disease ◽  
Rapid Loss ◽  
Normal Cells ◽  
Cultured Fibroblasts ◽  
Carrier Mechanism ◽  
Mucolipidosis Ii

Cultured fibroblasts from patients with I-cell disease (mucolipidosis II) accumulate excessive amounts of free cystine, similarly to cells from patients with nephropathic cystinosis, a disorder of lysosomal cystine transport. To clarify whether the intralysosomal accumulation of cystine in I-cell-disease fibroblasts was due to a defective disposal mechanism, we measured the rates of clearance of free [35S]cystine from intact normal, cystinotic and I-cell-disease fibroblasts. Loss of radioactivity from the two mutant cell types occurred slowly (t 1/2 = 500 min) compared with the rapid loss from normal cells (t 1/2 = 40 min). Lysosome-rich granular fractions isolated from three different cystine-loaded normal, cystinotic and I-cell-disease fibroblast strains were similarly examined for non-radioactive cystine egress. Normal granular fractions lost cystine rapidly (mean t 1/2 = 43 min), whereas cystinotic granular fractions did not lose any cystine (mean t 1/2 = infinity). I-cell-disease granular fractions displayed prolonged half-times for cystine disposal (mean = 108 min), suggesting that I-cell-disease fibroblasts, like cystinotic cells, possess a defective carrier mechanism for cystine transport.

scholarly journals B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)

2018 ◽  
Vol 86 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Ayano Yokoi ◽  
Yo Niida ◽  
Mondo Kuroda ◽  
Yoko Imi-Hashida ◽  
Tomoko Toma ◽  
...  
Keyword(s):  
B Cell ◽  
Inclusion Bodies ◽  
Class Ii ◽  
Hla Class Ii ◽  
Cell Disease ◽  
Specific Accumulation ◽  
Mucolipidosis Ii ◽  
Hla Class Ii Molecules

Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases

1977 ◽  
Vol 129 (1) ◽  
pp. 37-43 ◽  
Author(s):  
HB Patriquin ◽  
P Kaplan ◽  
HP Kind ◽  
A Giedion
Keyword(s):  
Cell Disease ◽  
Mucolipidosis Ii ◽  
Radiologic Features

Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis

2001 ◽  
Vol 24 (5) ◽  
pp. 603-604 ◽  
Author(s):  
J. A. Hochman ◽  
W. R. Treem ◽  
F. Dougherty ◽  
R. C. Bentley
Keyword(s):  
Neonatal Cholestasis ◽  
Cell Disease ◽  
Mucolipidosis Ii

MUCOLIPIDOSIS II (I-CELL DISEASE) A Clinical and Biochemical Study

1974 ◽  
Vol 63 (1) ◽  
pp. 9-16 ◽  
Author(s):  
ULRICH N. WIESMANN ◽  
FRANCO VASSELLA ◽  
NORBERT N. HERSCHKOWITZ
Keyword(s):  
Biochemical Study ◽  
Cell Disease ◽  
Mucolipidosis Ii

scholarly journals Study of the bone pathology in early mucolipidosis II (I-cell disease)

1989 ◽  
Vol 148 (6) ◽  
pp. 553-557 ◽  
Author(s):  
U. E. Pazzaglia ◽  
G. Beluffi ◽  
E. Bianchi ◽  
A. Castello ◽  
A. Coci ◽  
...  
Keyword(s):  
Cell Disease ◽  
Bone Pathology ◽  
Mucolipidosis Ii

scholarly journals Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)

2016 ◽  
Vol 12 (12) ◽  
pp. 1695-1696 ◽  
Author(s):  
William I. Wooten ◽  
Marianne S. Muhlebach ◽  
Joseph Muenzer ◽  
Ceila E. Loughlin ◽  
Bradley V. Vaughn
Keyword(s):  
Cell Disease ◽  
Mucolipidosis Ii
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