Annemieke Aartsma-Rus
@oligogirl.bsky.social
Translating science from bench to bedside and from jargon to lay language
#apaperaday Today's pick is by Kumai et al on an individual who turned out to have Becker muscular dystrophy but who was diagnosed because he developed rhabdomyolysis due to anesthesia. Published in Internal Medicine. Very nice example of a good case report! DOI: 10.2169/internalmedicine.5972-25
December 1, 2025 at 7:52 AM
#apaperaday Today's pick is by Kumai et al on an individual who turned out to have Becker muscular dystrophy but who was diagnosed because he developed rhabdomyolysis due to anesthesia. Published in Internal Medicine. Very nice example of a good case report! DOI: 10.2169/internalmedicine.5972-25
#apaperaday Please note that next week it will be #afewpaperaweek because of a busy schedule with the @euronmd.bsky.social TREAT-NMD translational training school happening in Leiden. Yours truly will be teaching, chairing sessions and leading working groups.
November 28, 2025 at 8:51 AM
#apaperaday Please note that next week it will be #afewpaperaweek because of a busy schedule with the @euronmd.bsky.social TREAT-NMD translational training school happening in Leiden. Yours truly will be teaching, chairing sessions and leading working groups.
#apaperaday Unexpectedly working from home, so an older pick from the 'from home' pile by Young Jeon et al on EZH2 inhibition in Duchenne models published in Science Advances. NB: the title hides that the authors also so single cell sequencing and spatial transcriptomics DOI: 10.1126/sciadv.adr4443
November 28, 2025 at 7:53 AM
#apaperaday Unexpectedly working from home, so an older pick from the 'from home' pile by Young Jeon et al on EZH2 inhibition in Duchenne models published in Science Advances. NB: the title hides that the authors also so single cell sequencing and spatial transcriptomics DOI: 10.1126/sciadv.adr4443
#apaperaday Today one of my favorite types of papers, i.e. a strange pathogenic variant in the dystrophin gene, where one would expect Duchenne, but sees Becker and there is a genetic explanation, by Naruse et al in Annals Neurology DOI: 10.1002/ana.78096
November 27, 2025 at 10:39 AM
#apaperaday Today one of my favorite types of papers, i.e. a strange pathogenic variant in the dystrophin gene, where one would expect Duchenne, but sees Becker and there is a genetic explanation, by Naruse et al in Annals Neurology DOI: 10.1002/ana.78096
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
November 26, 2025 at 8:21 AM
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
#apaperaday Today's pick is by Ashwini Balchandran et al on using delivery conjugates for antisense oligonucleotides (ASO) to deliver them to cancer cells, published in RSC (royal society of chemistry) advances. DOI: 10.1039/d5ra05904f
November 25, 2025 at 8:49 AM
#apaperaday Today's pick is by Ashwini Balchandran et al on using delivery conjugates for antisense oligonucleotides (ASO) to deliver them to cancer cells, published in RSC (royal society of chemistry) advances. DOI: 10.1039/d5ra05904f
#apaperaday Today's pick is an older paper by Silva-Santos et al in @jci.org from 2015 about a systematic analysis in mice to assess when starting expression of Ube3a, which is lacking in Angelman syndrome, a neurodevelopmental disease, still has impact on which aspects. DOI: 10.1172/JCI80554
November 24, 2025 at 9:03 AM
#apaperaday Today's pick is an older paper by Silva-Santos et al in @jci.org from 2015 about a systematic analysis in mice to assess when starting expression of Ube3a, which is lacking in Angelman syndrome, a neurodevelopmental disease, still has impact on which aspects. DOI: 10.1172/JCI80554
#apaperaday Today's pick is from @natcomms.nature.com by Esper et al on the consequences of lack of dystrophin during mouse embryogenic muscle formation. Yuzu was not interested in the paper and preferred playing. DOI: 10.1038/s41467-025-64999-3
November 21, 2025 at 9:12 AM
#apaperaday Today's pick is from @natcomms.nature.com by Esper et al on the consequences of lack of dystrophin during mouse embryogenic muscle formation. Yuzu was not interested in the paper and preferred playing. DOI: 10.1038/s41467-025-64999-3
#apaperaday Today a case report by Gutierrez-Baena et al in Internal and emergency medicine, on a Duchenne patient with euglycemic ketoacidosis due to dapaglifozin (a medicine that prevents glucose reabsorption by the kidney, a treatment for diabetes & heart failure). DOI: 10.1007/s11739-025-04058-3
November 20, 2025 at 7:37 AM
#apaperaday Today a case report by Gutierrez-Baena et al in Internal and emergency medicine, on a Duchenne patient with euglycemic ketoacidosis due to dapaglifozin (a medicine that prevents glucose reabsorption by the kidney, a treatment for diabetes & heart failure). DOI: 10.1007/s11739-025-04058-3
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
November 19, 2025 at 8:36 AM
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
#apaperaday Hot from the press, the @natcomms.nature.com paper by Mathews et al on the relationship between Htt expression and somatic instability in Huntington's disease mouse models. Partly presented already at conferences, but now the full story. DOI: 10.1038/s41467-025-64936-4
November 18, 2025 at 7:47 AM
#apaperaday Hot from the press, the @natcomms.nature.com paper by Mathews et al on the relationship between Htt expression and somatic instability in Huntington's disease mouse models. Partly presented already at conferences, but now the full story. DOI: 10.1038/s41467-025-64936-4
#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141
November 17, 2025 at 8:56 AM
#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141
#apaperaday Action Duchenne special from Hinckley Island with a pick from Jurlina et al from journal of genetic counseling on how prenatal genetic counselors discuss treatment options with females at risk of having sons with Duchenne. doi: 10.1002/jgc4.70127
November 15, 2025 at 9:42 AM
#apaperaday Action Duchenne special from Hinckley Island with a pick from Jurlina et al from journal of genetic counseling on how prenatal genetic counselors discuss treatment options with females at risk of having sons with Duchenne. doi: 10.1002/jgc4.70127
Improvements were mainly physical, with longer or faster running and improved stair climbing and jumping. Improvements were also seen in placebo treated patients, as expected in this age range and as also seen with the NSAA (placebo and Elevidys treated patients increased vs baseline).
November 14, 2025 at 9:46 AM
Improvements were mainly physical, with longer or faster running and improved stair climbing and jumping. Improvements were also seen in placebo treated patients, as expected in this age range and as also seen with the NSAA (placebo and Elevidys treated patients increased vs baseline).
#apaperaday Today & tomorrow there will be a DMD themed series to commemorate the Action Duchenne conference that takes place. The glass house is with me, but also got acquainted with some of my office pets. Today's pick is on caregiver perception of Elevidys effects. doi: 10.1007/s40120-025-00842-7
November 14, 2025 at 9:28 AM
#apaperaday Today & tomorrow there will be a DMD themed series to commemorate the Action Duchenne conference that takes place. The glass house is with me, but also got acquainted with some of my office pets. Today's pick is on caregiver perception of Elevidys effects. doi: 10.1007/s40120-025-00842-7
#apaperaday Today's pick is hot off the press: the @nejm.org sounding board paper from @fda.gov Prasad et al on the plausible mechanism pathway for individualized base/gene editing treatments for eligible patients. DOI: 10.1056/NEJMsb2512695
November 13, 2025 at 7:41 AM
#apaperaday Today's pick is hot off the press: the @nejm.org sounding board paper from @fda.gov Prasad et al on the plausible mechanism pathway for individualized base/gene editing treatments for eligible patients. DOI: 10.1056/NEJMsb2512695
#apaperaday Today's pick is by Vorontsova et al published in @mdpiopenaccess.bsky.social International Journal of Molecular Sciences, a case report of 3 females with Duchenne muscular dystrophy due to translocations involving the dystrophin gene. DOI: 10.3390/ijms26199389
November 12, 2025 at 9:23 AM
#apaperaday Today's pick is by Vorontsova et al published in @mdpiopenaccess.bsky.social International Journal of Molecular Sciences, a case report of 3 females with Duchenne muscular dystrophy due to translocations involving the dystrophin gene. DOI: 10.3390/ijms26199389
#apaperaday back home. Reunited with Yuzu who is mainly interested in scratches and not confetti making of today's pick in @pnas.org by Cohen et al on the use of synthetic bottlebrush block copolymers to stabilize muscle fiber membranes in a mouse model of Duchenne. Doi 10.1073/pnas.2513599122
November 11, 2025 at 7:06 AM
#apaperaday back home. Reunited with Yuzu who is mainly interested in scratches and not confetti making of today's pick in @pnas.org by Cohen et al on the use of synthetic bottlebrush block copolymers to stabilize muscle fiber membranes in a mouse model of Duchenne. Doi 10.1073/pnas.2513599122
The final TACT themed #apaperaday is about microdystrophin gene therapy again but now with a focus on the immune response that is induced after AAV natural infection or gene therapy infusion. A paper from Saha et al published in Human Gene Therapy doi 10.1177/10430342251385586
November 9, 2025 at 1:03 PM
The final TACT themed #apaperaday is about microdystrophin gene therapy again but now with a focus on the immune response that is induced after AAV natural infection or gene therapy infusion. A paper from Saha et al published in Human Gene Therapy doi 10.1177/10430342251385586
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
November 8, 2025 at 11:31 AM
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
Both microdystrophins were correctly located at the fiber membrane and improved the force of the EDL muscle. The CT+ microdystrophin protected more against a force drop after eccentric exercise. The microdystrophins could recruit syntrophin and alpha dystrobrevin, but +CT did much better👇
November 7, 2025 at 12:22 PM
Both microdystrophins were correctly located at the fiber membrane and improved the force of the EDL muscle. The CT+ microdystrophin protected more against a force drop after eccentric exercise. The microdystrophins could recruit syntrophin and alpha dystrobrevin, but +CT did much better👇
Here authors compared 2 micro-dystrophins that are identical except that one contains the region encoded by exon 71-75 (CT) and the other does not (no CT). See picture for more information 👇. The vector, promotor, dose etc were identical. Untreated mdx and wild types were used as references 🥳
November 7, 2025 at 12:18 PM
Here authors compared 2 micro-dystrophins that are identical except that one contains the region encoded by exon 71-75 (CT) and the other does not (no CT). See picture for more information 👇. The vector, promotor, dose etc were identical. Untreated mdx and wild types were used as references 🥳
#apaperaday again from the TACT meeting in Atlanta, with the WAKZ Glass House on Tour and again about microdystrophin with a pick from Foltz et al from Molecular Therapy methods and clinical development with a head to head comparison of two micro-dystrophins doi 10.1016/j.omtm.2025.101519
November 7, 2025 at 12:13 PM
#apaperaday again from the TACT meeting in Atlanta, with the WAKZ Glass House on Tour and again about microdystrophin with a pick from Foltz et al from Molecular Therapy methods and clinical development with a head to head comparison of two micro-dystrophins doi 10.1016/j.omtm.2025.101519
#apaperaday with delay due to travels to the TREAT-NMD advisory committee for therapeutics meeting in Atlanta. Also taking the WAKZ (children hospital at LUMC) glass house on tour rather than Klaus to commemorate the glazen huis topic of spieren voor spieren in December (Dutch people understand).
November 6, 2025 at 9:02 PM
#apaperaday with delay due to travels to the TREAT-NMD advisory committee for therapeutics meeting in Atlanta. Also taking the WAKZ (children hospital at LUMC) glass house on tour rather than Klaus to commemorate the glazen huis topic of spieren voor spieren in December (Dutch people understand).
#apaperaday Today's pick is a commentary by Kerkhof and Buijsen from Molecular Therapy Nucleic Acids, about a paper by Yameogo et al, who describe a new variant for Friedreich's ataxia and show that antisense oligonucleotides correct normal transcripts. DOI: 10.1016/j.omtn.2025.102723
November 5, 2025 at 7:25 AM
#apaperaday Today's pick is a commentary by Kerkhof and Buijsen from Molecular Therapy Nucleic Acids, about a paper by Yameogo et al, who describe a new variant for Friedreich's ataxia and show that antisense oligonucleotides correct normal transcripts. DOI: 10.1016/j.omtn.2025.102723