The Cure AP-4 non-profit organization was founded in 2016 by families of two of the known SPG47 patients.
Joined November 2016
- Tweets 56
- Following 62
- Followers 106
- Likes 57
17 Photos and videos
CureAP-4 retweeted
30 May 2019
Another independent discovery of ATG9A missorting in AP-4 deficiency: doi.org/10.1080/15548627.201…. So pleased to finally see this in print. Congratulations @Davoriii and @JosefKittler. Very important for efforts to cure AP-4-HSP. #CureSPG47
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Five-Year Old BFFs Share Devastating Rare Disease; Spur Intercontinental Research Offering Hope to Families #rarediseaseday2019 #ShowYourRare #curespg47 prnewswire.com/news-releases…
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A much needed vacation for these two hard-working girls! We’re so lucky that we were able to overlap our vacations and spend a few days together at the happiest place on Earth! #youvegotafriendinme #curespg47 🏰✨
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CureAP-4 retweeted
27 Sep 2018
Very excited to announce the Robinson and Borner lab paper "AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A" finally lives and breathes online!
Thanks to everyone who has been involved! #CureSPG47
nature.com/articles/s41467-0…
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Molly has recently taken an interest in ballet, but it has been a challenge finding a dance class for her due to her physical limitations. So - we brought ballet to her! We installed a ballet bar and mirror in her playroom and a family friend came over and taught her ballet!
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Many thanks to Doug Pederson for having dinner with Kevin and some of the members of @RivertonCC as part of a donation from our 1st ‘Golf for a Cure’ outing!
If you would like to be a part of our 2nd annual event by playing or sponsoring, please visit rivertoncc.com/curespg47
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CureAP-4 retweeted
26 Apr 2018
Our latest paper showing ATG9A missorting and axonal dystrophy in neurons from a mouse model of AP-4-deficiency syndrome, a form of hereditary spastic paraplegia, is available @PLOSGenetics tinyurl.com/yag3yu6y Relevant to @CureSPG47 @AutophagyPapers @NICHD_NIH
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Cure SPG47 Fundraiser tomorrow at Kendra Scott in Ardmore, PA at 5pm! 20% of proceeds will be donated. You can also order via phone (610) 726-1838. facebook.com/events/16608784…
CureAP-4 retweeted
24 Dec 2017
December a very exciting month for AP-4 deficiency research. Independent studies from Bonifacino (NIH), Robinson (CIMR) & Kittler (UCL) labs are in agreement on a potential disease mechanism. Happy Christmas @CureSPG47. I hope we see continued progress in 2018 to #CureSPG47. x.com/Davoriii/status/943466…
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CureAP-4 retweeted
18 Dec 2017
Handsome Grant Money Aids Rare Disease Research bit.ly/2kHB9S4 #spasticparaplegia #raredisease HSP Research Foundation @CureSPG47 @Spastic_USA
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What a great segment @KerryKavanaugh (an old friend of Kasey’s from #Medford) and Boston 25 news did on us tonight for their 6pm news! Even better- if you missed it you can see it again at 10 PM! Set your DVR if you’re an early bird!
#Boston25
#CureSPG47
#DoubletheGoodSPG47
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Molly is a toddler of few words but loves cheering for the @Eagles l🦅💚 #FlyEaglesFly #curespg47 @cj_wentz @TorreySmithWR @ZERTZ_86 @TheWorldof_AJ @JayTrain #givingtuesday
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Today is #GivingTuesday! An Angel Donor is willing to match any donations up to $100,000! Help us turn $100,000 into $200,000 gofundme.com/DoubletheGood #keepthemwalking #curespg47
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CureAP-4 retweeted
28 Nov 2017
Our latest paper showing that adaptor protein complex AP-4 mediates export of the autophagy protein ATG9A from the TGN is out on PNAS. pnas.org/cgi/content/long/17… Findings may be relevant to AP-4 deficiency syndrome @CureSPG47 Effects of AP-4 KO on ATG9A distribution are dramatic.
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On 9/12/17, we hosted our 1st Golf Tournament and were able to raise $227,612! It was an incredible day! #grateful youtube.com/watch?v=a-AyuY2G…
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