[HTML][HTML] Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and …

DE Weese-Mayer, CM Rand, A Zhou, MS Carroll… - Pediatric …, 2017 - nature.com
Abstract The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS)
research journey has led to increased phenotypic-genotypic knowledge regarding …

Hypoventilation Syndromes

A Shepherd, SC Tsai - Current Pulmonology Reports, 2017 - Springer
Abstract Purpose of Review This chapter provides a concise yet comprehensive overview of
hypoventilation syndromes for the medical provider and offers a brief overview of the latest …

A therapeutic target for inhibition of neurodegeneration: Autophagy

AB Pupyshev, TA Korolenko, MA Tikhonova - … and Behavioral Physiology, 2017 - Springer
The role of autophagy in supporting cellular survival and inhibiting neurodegeneration in
Alzheimer's disease, Parkinson's disease, and Huntington's disease, which are …

Autophagy

PA Lewis, M Perez-Carrion, G Piccoli - Parkinson's Disease, 2017 - Elsevier
The catabolic cellular processes collectively described as autophagy have been heavily
implicated in the pathogenesis of Parkinsons disease by both genetic and cellular evidence …

[HTML][HTML] 自噬与肝脏脂质代谢的研究进展

张译尹, 龚建平, 李泽民 - 世界华人消化杂志, 2017 - wjgnet.com
自噬最初被认为是一种非选择性的降解途径, 用来降解细胞内的蛋白质或损坏的细胞器,
是细胞缺乏营养, 能量激活分解代谢的过程. 自噬通过利用溶酶体降解的细胞质的成分和回收的 …

Investigating the Pathogenic Mechanism of Expanded Polyalanine Tract Mutations in the ARX Homeobox Transcription Factor causing Intellectual Disability

T Mattiske - 2017 - digital.library.adelaide.edu.au
Intellectual disability (ID) is a highly prevalent disorder that affects 1-3% of the population,
with~ 100 causative genes mapped to the X-chromosome. The Aristaless-related homeobox …