Associated Papers
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
Kizhakkedath P et al.
Febs Open Bio, 2019
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
Kizhakkedath P et al.
Scientific Reports, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Kizhakkedath P et al.
Biochimica Et Biophysica Acta, 2014
Challenges of diagnostic exome sequencing in an inbred founder population.
Azmanov DN et al.
Molecular Genetics & Genomic Medicine, 2013
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
Schlotawa L et al.
Journal of Neurology, 2013
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Ali BR et al.
Bmc Medical Genetics, 2012
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Boycott KM et al.
Journal of Child Neurology, 2009
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