Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

S Shribman, E Reid, AH Crosby, H Houlden… - The Lancet …, 2019 - thelancet.com
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The …

Metabolic control of cell death

DR Green, L Galluzzi, G Kroemer - Science, 2014 - science.org
Background For several decades, intermediate metabolism and signal transduction have
been considered two independent entities. On one side stood the catabolic and anabolic …

MicroRNAs: history, biogenesis, and their evolving role in animal development and disease

M Bhaskaran, M Mohan - Veterinary pathology, 2014 - journals.sagepub.com
The discovery of microRNAs (miRNAs) in 1993 followed by developments and discoveries
in small RNA biology have redefined the biological landscape by significantly altering the …

N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force

C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

JK Fink - Acta neuropathologica, 2013 - Springer
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

Form follows function: the importance of endoplasmic reticulum shape

LM Westrate, JE Lee, WA Prinz… - Annual review of …, 2015 - annualreviews.org
The endoplasmic reticulum (ER) has a remarkably complex structure, composed of a single
bilayer that forms the nuclear envelope, along with a network of sheets and dynamic tubules …

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

G Novarino, AG Fenstermaker, MS Zaki, M Hofree… - science, 2014 - science.org
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function …

[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

[HTML][HTML] Mitochondria: the next (neurode) generation

EA Schon, S Przedborski - Neuron, 2011 - cell.com
Adult-onset neurodegenerative disorders are disabling and often fatal diseases of the
nervous system whose underlying mechanisms of cell death remain unknown. Defects in …

[HTML][HTML] A class of dynamin-like GTPases involved in the generation of the tubular ER network

J Hu, Y Shibata, PP Zhu, C Voss, N Rismanchi… - Cell, 2009 - cell.com
The endoplasmic reticulum (ER) consists of tubules that are shaped by the reticulons and
DP1/Yop1p, but how the tubules form an interconnected network is unknown. Here, we …