Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
July 8, 1997Proceedings of the National Academy of SciencesOpen Access

Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

View Full Paper
Ask AI
Bookmark
Share

Population

Differentiated cultured myoblasts and patients with myotonic dystrophy (DM)

Design

Preclinical

Authors

BDBrigid M. DavisBrigham and Women's HospitalMMMila E. McCurrachNYU Langone HealthKTKrishan TanejaBrigham and Women's Hospital

Discussion

Loading...

Member takes

Implication

May explain DMPK loss via nuclear retention in myotonic dystrophy models; leaves open human relevance and therapeutic targeting.

Structured PICO

P
Population
Differentiated cultured myoblasts and patients with myotonic dystrophy (DM)
I
Intervention
Expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of DMPK
O
Outcome
Nuclear retention of mutant transcripts and formation of stable clusters linked to the nuclear matrix

The study identifies nuclear retention of mutant transcripts as a novel mechanism for loss of gene function in myotonic dystrophy.

Cite This Study

Davis et al. (1997) studied this question.

synapsesocial.com/papers/6a7355be452eeadd12c67a3dhttps://doi.org/10.1073/pnas.94.14.7388
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation1995 · 178 citations
  2. 2Targeting of c-myc and β-globin coding sequences to cytoskeletal-bound polysomes by c-myc 3′ untranslated region1994 · 63 citations
  3. 3Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.1995 · 605 citations
  4. 4Identification, Tissue-specific Expression, and Subcellular Localization of the 80- and 71-kDa Forms of Myotonic Dystrophy Kinase Protein1995 · 72 citations