CureAP-4

The Cure AP-4 non-profit organization was founded in 2016 by families of two of the known SPG47 patients.

[Alexandra Davies @Alex_Doune]

Another independent discovery of ATG9A missorting in AP-4 deficiency: https://t.co/pRnb4Tysu4. So pleased to finally see this in print. Congratulations @Davoriii and @JosefKittler. Very important for efforts to cure AP-4-HSP. #CureSPG47

[CureAP-4 @CureAP4]

Thankful for these girls! #lucky #inclusion #curespg47

[CureAP-4 @CureAP4]

Five-Year Old BFFs Share Devastating Rare Disease; Spur Intercontinental Research Offering Hope to Families #rarediseaseday2019 #ShowYourRare #curespg47 https://t.co/YQJ41mXOmd

[CureAP-4 @CureAP4]

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 🏰✨

[CureAP-4 @CureAP4]

https://t.co/8cCaZSN8Jx

[Alexandra Davies @Alex_Doune]

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
https://t.co/r7KMRl0w25

[CureAP-4 @CureAP4]

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!

[CureAP-4 @CureAP4]

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 https://t.co/W77Dx2jcAj

[CureAP-4 @CureAP4]

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!

[Juan S. Bonifacino @BonifacinoJuan]

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 https://t.co/pCW11sKRMo Relevant to @CureSPG47 @AutophagyPapers @NICHD_NIH

[CureAP-4 @CureAP4]

Cure SPG47 Fundraiser tomorrow at Kendra Scott in Ardmore, PA at 5pm! 20% of proceeds will be donated. You can also order via phone [phone]. https://t.co/9zfIVvUEbJ

[CureAP-4 @CureAP4]

“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.

[Alexandra Davies @Alex_Doune]

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. https://t.co/PRVE31weY2

[Patient Worthy @PatientWorthy]

Handsome Grant Money Aids Rare Disease Research https://t.co/MeBb32qTlv #spasticparaplegia #raredisease HSP Research Foundation @CureSPG47 @Spastic_USA

[CureAP-4 @CureAP4]

@NaminaForna - heartwarming and exciting! https://t.co/Qa0gOScYzG

[CureAP-4 @CureAP4]

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

[CureAP-4 @CureAP4]

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

[CureAP-4 @CureAP4]

Today is #GivingTuesday! An Angel Donor is willing to match any donations up to $100,000! Help us turn $100,000 into $200,000 https://t.co/ySUzHPepfd #keepthemwalking #curespg47

[Juan S. Bonifacino @BonifacinoJuan]

Our latest paper showing that adaptor protein complex AP-4 mediates export of the autophagy protein ATG9A from the TGN is out on PNAS. https://t.co/VJaZouvKie Findings may be relevant to AP-4 deficiency syndrome @CureSPG47 Effects of AP-4 KO on ATG9A distribution are dramatic.