Author
National Institutes of HealthORCID 0000-0002-8179-6869Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver
This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.
Surbhi Verma, Nireekshit Addanki Tirumala, X. G. Zhu…·Juan S. Bonifacino
The paper shows that mRAVE-dependent v-ATPase assembly regulates spatial lysosomal acidification in axons by controlling V1-V0 domain association and vesicle transport.
Gary Loughran, Raffaella De Pace, Ningyu Ding…·Yousuf A. Khan
The paper identifies a programmed ribosomal frameshifting event in PLEKHM2 mRNA that generates a constitutively active protein domain essential for lysosome transport and cardiac function.
Wei Wu, Sarah E. Kargbo-Hill, William J. Nathan…·André Nussenzweig
The paper identifies DNA single-strand breaks (SSBs) accumulating at neuronal enhancers and shows their repair involves PARP1, XRCC1, and DNA polymerase β.