INT277312

Context Info Confidence 0.01 First Reported 2009 Last Reported 2009 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.36 Pain Relevance 0

RNA binding (Upf1, Mbnl1) cytoplasm (Upf1, Mbnl1) mRNA processing (Mbnl1) nucleus (Mbnl1) helicase activity (Upf1) cell cycle (Upf1)

Anatomy Link Frequency nucleus 2 Upf1 (Mus musculus) Mbnl1 (Mus musculus)

Pain Link Frequency Relevance Heat GABAergic 10 29.00 imagery 10 5.00 gABA 9 5.00 interneuron 1 5.00 anesthesia 1 5.00 medulla 1 5.00

Disease Link Frequency Relevance Heat Disease 11 80.24 Frailty 21 73.12 Spinocerebellar Ataxia Type 2 5 50.00 Targeted Disruption 20 48.64 Movement Disorders 2 33.44 Peripheral Arterial Disease 4 5.00 Neurodegenerative Disease 2 5.00 Huntington's Chorea 2 5.00 Sprains And Strains 2 5.00 Hypopituitarism 2 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Further studies will need to be done to determine if MBNL1 is expressed in the nucleus of these cells or if changes in MBNL1 splice forms affect its ability to bind to the CUG expansion transcripts.

Regulation (affect) of transcripts Binding (bind) of MBNL1 in nucleus

1) Confidence 0.01 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.36 Pain Relevance 0

General Comments

This test has worked.