Property Summary

NCBI Gene PubMed Count 69
Grant Count 62
R01 Count 39
Funding $6,481,710.23
PubMed Score 254.09
PubTator Score 120.07

Knowledge Summary

Patent

No data available

Gene RIF (48)

PMID Text
26648032 Laforin prevents the auto-degradation of malin by presenting itself as a substrate. Malin preferentially degrades the phosphatase-inactive laforin monomer.
26578817 Laforin-glycan interactions occur with a favourable enthalpic contribution counter-balanced by an unfavourable entropic contribution.
26216881 laforin is responsible for glycogen dephosphorylation during exercise and acts during the cytosolic degradation of glycogen
26102034 Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
25544560 The crystal structure of laforin bound to phosphoglucan product, reveals its unique integrated tertiary and quaternary structure.
25538239 novel molecular determinants in the laforin active site that help decipher the mechanism of glucan phosphatase activity.
25270369 This study identified some Mild Lafora disease have EPM2A mutation.
25246353 This study suggest that variations in phenotypes of EPM2A-deficient Lafora disease.
24770803 Studied the role of conformational changes in human laforin structure due to existing single mutation W32G and prepared double mutation W32G/K87A related to loss of glycogen binding.
24068615 Polyglucosan body degradation requires a protein assembly that includes laforin and malin.
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AA Sequence

MHPKEGAEQHVFSPVPGAPTPPPNRCGRLVLGPRLPAAGTPGPGIRAAAARHALPLWGGGATRRGRRPAG      1 - 70
AAGGGVAARAGALGAARCRPPEAGRHRGGRRGPGPAGAGPVARGGGAGGRGGGAGRGGAGPRGHVLVQVP     71 - 140
EAGAGRRALLGRYCQQTPAPGAERELRPAPPTGASASGRPRRPRRRASRAFCPRPCALPGRPGLTLLCRP    141 - 210
RCRRQPRLRLPTDSLDPYSAPGRLPAHSVACPSDLVSAHPVLSFFPTAPASRASALRLPPGAPFALRVPL    211 - 280
DLRVPPFAGPLAARPRAADGFNSPTPPWLGFVSSFSCSNSLKKTQNDPTNETSVFANPRQQCAT          281 - 344
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Text Mined References (69)

PMID Year Title
26648032 2015 Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
26578817 2016 Biophysical characterization of laforin-carbohydrate interaction.
26216881 2015 Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.
26102034 2015 Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
25544560 2015 Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
25538239 2015 Dimeric quaternary structure of human laforin.
25270369 2014 Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
25246353 2014 Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
24837458 2014 The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
24770803 2014 Molecular dynamics simulations and principal component analysis on human laforin mutation W32G and W32G/K87A.
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