Search filters

List of works by Karthikeyan Radhakrishnan

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

scientific article published on 12 February 2020

AP-1 membrane-cytoplasm recycling regulated by mu1A-adaptin

scientific article

ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum

scientific article published on 4 January 2008

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

scientific article published on 22 May 2017

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins

scientific article published on 10 December 2008

Proprotein convertases process and thereby inactivate formylglycine-generating enzyme.

scientific article

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

scientific article published on 16 January 2013

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

scientific article published on 12 January 2011

The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum

scientific article

Paulina is supported by:

About Paulina

Help