TY - JOUR
T1 - Ten plus one challenges in diseases of the lysosomal system
AU - Grabowski, Gregory A.
AU - Whitley, Chester
N1 - Publisher Copyright:
© 2016 Elsevier Inc.
PY - 2017/1/1
Y1 - 2017/1/1
N2 - The advent of the first effective specific therapy for a lysosomal storage disease (LSDs), Gaucher disease type 1, by Roscoe O. Brady was foundational for development of additional treatments for this group of rare diseases. The past 26 years, since the approval of enzyme therapy for Gaucher disease type 1, have witnessed a burgeoning understanding of LSDs at genetic, molecular, biochemical, cell biologic, and clinical levels. Simultaneously, this expansion of knowledge has exposed our incomplete understanding of the individual pathophysiologies of LSDs as well as difficult challenges for improvement in therapy and therapeutic outcomes for afflicted individuals. Here, 10 such challenges/problems representing major impediments, which need to be overcome, to move forward toward the goals of more effective and complete therapies for these devastating diseases.
AB - The advent of the first effective specific therapy for a lysosomal storage disease (LSDs), Gaucher disease type 1, by Roscoe O. Brady was foundational for development of additional treatments for this group of rare diseases. The past 26 years, since the approval of enzyme therapy for Gaucher disease type 1, have witnessed a burgeoning understanding of LSDs at genetic, molecular, biochemical, cell biologic, and clinical levels. Simultaneously, this expansion of knowledge has exposed our incomplete understanding of the individual pathophysiologies of LSDs as well as difficult challenges for improvement in therapy and therapeutic outcomes for afflicted individuals. Here, 10 such challenges/problems representing major impediments, which need to be overcome, to move forward toward the goals of more effective and complete therapies for these devastating diseases.
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U2 - 10.1016/j.ymgme.2016.11.388
DO - 10.1016/j.ymgme.2016.11.388
M3 - Article
C2 - 27923545
AN - SCOPUS:85008392480
SN - 1096-7192
VL - 120
SP - 38
EP - 46
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1-2
ER -