Concepedia

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders

Mi‐Young Son, Ye Seul Son, Myung Jin Son, Yee Sook Cho

Biochemical and Biophysical Research Communications · 2015 · 21 citations · 12 references

DOI

Concepts

References

12

Crystal Structure of the Human Cytosolic Sialidase Neu2

Leonard M. G. Chavas, Cristina Tringali, Paola Fusi et al. · Journal of Biological Chemistry · 2004 · 173 citations · Full text

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GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 157 citations · Full text

, , +16

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

Erik Bonten · Human Molecular Genetics · 2000 · 150 citations

, , +17

Crystal Structure of Human β-Galactosidase

Umeharu Ohto, Kimihito Usui, Toshinari Ochi et al. · Journal of Biological Chemistry · 2011 · 126 citations · Full text

, , +17

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Kunihiro Yoshida, Akihiko Oshima, Michie Shimmoto et al. · PubMed · 1991 · 109 citations

, , +11