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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Miroslav Janošı́k, Jana Oliveriusová, Bohumila Janošı́ková, Jitka Sokolová, Eva Kraus, Jan P. Kraus, Viktor Kožich

The American Journal of Human Genetics · 2001 · 80 citations · 19 references

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19

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Aggresomes: A Cellular Response to Misfolded Proteins

Jennifer Johnston, Cristina L. Ward, Ron R. Kopito · The Journal of Cell Biology · 1998 · 2.2K citations · Full text

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The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

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Evidence that translation reinitiation abrogates nonsense‐mediated mRNA decay in mammalian cells

Jing Zhang, Lynne E. Maquat · The EMBO Journal · 1997 · 189 citations · Full text

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Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein.

Vladimír Kéry, Gabriela Bukovská, Jan P. Kraus · Journal of Biological Chemistry · 1994 · 184 citations · Full text

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