In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

Does bafilomycin A1block the fusion of autophagosomes with lysosomes?

(2014) Daniel J. Klionsky et al.   Autophagy

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

(2013) Katrin Kollmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

(2013) Christian Beetz et al.   JOURNAL OF CLINICAL INVESTIGATION

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Molecular logic of neocortical projection neuron specification, development and diversity

(2013) Luciano Custo Greig et al.   NATURE REVIEWS NEUROSCIENCE

At the end of the autophagic road: an emerging understanding of lysosomal functions in autophagy

(2013) Han-Ming Shen et al.   TRENDS IN BIOCHEMICAL SCIENCES

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

(2012) K. Kollmann et al.   BRAIN

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

(2012) J. Christopher Hennings et al.   EMBO Molecular Medicine

BioImageXD: an open, general-purpose and high-throughput image-processing platform

(2012) Pasi Kankaanpää et al.   NATURE METHODS

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Termination of autophagy and reformation of lysosomes regulated by mTOR

(2010) Li Yu et al.   NATURE

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

(2010) Antonia P. Sagona et al.   NATURE CELL BIOLOGY

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl- Accumulation

(2010) S. Weinert et al.   SCIENCE

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The determination of projection neuron identity in the developing cerebral cortex

(2008) Dino P Leone et al.   CURRENT OPINION IN NEUROBIOLOGY