CureAP-4 @CureAP4
The Cure AP-4 non-profit organization was founded in 2016 by families of two of the known SPG47 patients. cureAP4.org Newburyport, MA Joined November 2016-
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Another independent discovery of ATG9A missorting in AP-4 deficiency: doi.org/10.1080/155486…. So pleased to finally see this in print. Congratulations @Davoriii and @JosefKittler. Very important for efforts to cure AP-4-HSP. #CureSPG47
Thankful for these girls! #lucky #inclusion #curespg47
Five-Year Old BFFs Share Devastating Rare Disease; Spur Intercontinental Research Offering Hope to Families #rarediseaseday2019 #ShowYourRare #curespg47 prnewswire.com/news-releases/…
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 🏰✨
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/s4146…
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!
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
SPG47 causes extreme weakness in Molly’s legs and she works so hard each and every day to get stronger. Bending down to pick things up from the ground may seem simple to most, but this is a HUGE accomplishment for Molly!
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
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/1660878…
“If you can’t fly, then run, If you can’t run, then walk, If you can’t walk, then crawl, But whatever you do, you have to keep moving forward.” -Martin Luther King Jr.
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.
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.
Handsome Grant Money Aids Rare Disease Research bit.ly/2kHB9S4 #spasticparaplegia #raredisease HSP Research Foundation @CureSPG47 @Spastic_USA
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
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
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
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/lo… Findings may be relevant to AP-4 deficiency syndrome @CureSPG47 Effects of AP-4 KO on ATG9A distribution are dramatic.
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-AyuY…
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