Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

(2018) Kyle Denton et al.   HUMAN MOLECULAR GENETICS

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

(2018) En-Lin Dong et al.   Molecular Neurodegeneration

The S100A4 Protein Signals through the ErbB4 Receptor to Promote Neuronal Survival

(2018) Stanislava Pankratova et al.   Theranostics

Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis

(2018) Tomohiro Maruyama et al.   Cell Death & Disease

Neurotrophin Expression in Lymphocytes: a Powerful Indicator of Degeneration in Parkinson’s Disease, Amyotrophic Lateral Sclerosis and Ataxia

(2017) Anjana Sadanand et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

(2017) Yu Ohki et al.   Molecular Neurodegeneration

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Parkin Modulates Endosomal Organization and Function of the Endo-Lysosomal Pathway

(2016) Pingping Song et al.   JOURNAL OF NEUROSCIENCE

Activity-Dependent Degradation of Synaptic Vesicle Proteins Requires Rab35 and the ESCRT Pathway

(2016) Patricia Sheehan et al.   JOURNAL OF NEUROSCIENCE

Accumulation of amyloid-β by astrocytes result in enlarged endosomes and microvesicle-induced apoptosis of neurons

(2016) Sofia Söllvander et al.   Molecular Neurodegeneration

Structural Basis for Selective Interaction between the ESCRT Regulator HD-PTP and UBAP1

(2016) Deepankar Gahloth et al.   STRUCTURE

ESCRT-0 dysfunction compromises autophagic degradation of protein aggregates and facilitates ER stress-mediated neurodegeneration via apoptotic and necroptotic pathways

(2016) Ryuji Oshima et al.   Scientific Reports

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish

(2016) Robert A. Kozol et al.   Frontiers in Molecular Neuroscience

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

(2015) Marie Coutelier et al.   BRAIN

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

(2015) Chong-Chong Xu et al.   Disease Models & Mechanisms

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia

(2015) Hans Zempel et al.   Molecular Neurodegeneration

An ESCRT module is required for neuron pruning

(2015) Nicolas Loncle et al.   Scientific Reports

The endosomal-lysosomal system: from acidification and cargo sorting to neurodegeneration

(2015) Yong-Bo Hu et al.   Translational Neurodegeneration

Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons

(2014) Hong Chen et al.   Cell Stem Cell

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Dysregulation of protein trafficking in neurodegeneration

(2014) Xin Wang et al.   Molecular Neurodegeneration

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The molecular basis for selective assembly of the UBAP1-containing endosome-specific ESCRT-I complex

(2013) L. Wunderley et al.   JOURNAL OF CELL SCIENCE

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

(2012) Y. Song et al.   Disease Models & Mechanisms

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

The UBAP1 Subunit of ESCRT-I Interacts with Ubiquitin via a SOUBA Domain

(2012) Monica Agromayor et al.   STRUCTURE

Neuronal Functions of ESCRTs

(2012) Jin-A Lee et al.   Experimental Neurobiology

Multivesicular Body Morphogenesis

(2011) Phyllis I. Hanson et al.   Annual Review of Cell and Developmental Biology

UBAP1 Is a Component of an Endosome-Specific ESCRT-I Complex that Is Essential for MVB Sorting

(2011) Flavia Stefani et al.   CURRENT BIOLOGY

In vivo imaging and quantitative analysis of changes in axon length using transgenic zebrafish embryos

(2011) Jyotshnabala Kanungo et al.   NEUROTOXICOLOGY AND TERATOLOGY

How Ubiquitin Functions with ESCRTs

(2011) S. Brookhart Shields et al.   TRAFFIC

UMA and MABP domains throw light on receptor endocytosis and selection of endosomal cargoes

(2010) R. F. de Souza et al.   BIOINFORMATICS

Divergent pathways lead to ESCRT-III-catalyzed membrane fission

(2010) Suman Peel et al.   TRENDS IN BIOCHEMICAL SCIENCES

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING