Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias

Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion

(2020) Seongju Lee et al.   Science Signaling

KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity

(2020) Mengyu Liu et al.   Autophagy

Structure of Human ATG9A, the Only Transmembrane Protein of the Core Autophagy Machinery

(2020) Carlos M. Guardia et al.   Cell Reports

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

(2020) Antonella Sferra et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

(2019) Konrad Platzer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

(2019) B. Pascual et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Sequential formation of different layers of dystrophic neurites in Alzheimer’s brains

(2019) Md Golam Sharoar et al.   MOLECULAR PSYCHIATRY

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

(2019) Shinya Iwasawa et al.   ANNALS OF NEUROLOGY

Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome

(2019) Davor Ivankovic et al.   Autophagy

Preserving Lysosomal Function in the Aging Brain: Insights from Neurodegeneration

(2019) Wesley Peng et al.   Neurotherapeutics

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

(2019) Franca Vulinovic et al.   HUMAN MUTATION

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

(2019) Robert Behne et al.   HUMAN MOLECULAR GENETICS

Converging cellular themes for the hereditary spastic paraplegias

(2018) Craig Blackstone   CURRENT OPINION IN NEUROBIOLOGY

Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval

(2018) Jennifer Hirst et al.   PLOS BIOLOGY

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

(2018) Raffaella De Pace et al.   PLoS Genetics

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

(2018) Alexandra K. Davies et al.   Nature Communications

Impaired JIP3-dependent axonal lysosome transport promotes amyloid plaque pathology

(2017) Swetha Gowrishankar et al.   JOURNAL OF CELL BIOLOGY

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

(2017) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

(2017) Julien Branchu et al.   NEUROBIOLOGY OF DISEASE

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

(2017) Conceição Bettencourt et al.   Orphanet Journal of Rare Diseases

AP-4 mediates export of ATG9A from thetrans-Golgi network to promote autophagosome formation

(2017) Rafael Mattera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons

(2016) Anne Davenport et al.   Neurodegenerative Diseases

Autophagy initiation by ULK complex assembly on ER tubulovesicular regions marked by ATG9 vesicles

(2016) Eleftherios Karanasios et al.   Nature Communications

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts

(2015) Youngshin Lim et al.   ANNALS OF NEUROLOGY

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

(2015) Nyamkhishig Sambuughin et al.   BMC Neurology

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

(2015) Joanna M. Solowska et al.   BRAIN

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Axonal autophagosomes recruit dynein for retrograde transport through fusion with late endosomes

(2015) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

Repeated ER–endosome contacts promote endosome translocation and neurite outgrowth

(2015) Camilla Raiborg et al.   NATURE

Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques

(2015) Swetha Gowrishankar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) Rita-Eva Varga et al.   PLoS Genetics

ZFYVE26/SPASTIZIN

(2014) Chiara Vantaggiato et al.   Autophagy

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

(2014) Viviana Pensato et al.   BRAIN

Autophagosome Biogenesis in Primary Neurons Follows an Ordered and Spatially Regulated Pathway

(2014) Sandra Maday et al.   DEVELOPMENTAL CELL

Adaptor proteins involved in polarized sorting

(2014) Juan S. Bonifacino   JOURNAL OF CELL BIOLOGY

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

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

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

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

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

(2014) Nina A. Schlipf et al.   Molecular Genetics & Genomic Medicine

The Alzheimer’s β-secretase BACE1 localizes to normal presynaptic terminals and to dystrophic presynaptic terminals surrounding amyloid plaques

(2013) Patty C. Kandalepas et al.   ACTA NEUROPATHOLOGICA

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Organelle Gatekeeper Function forCaenorhabditis elegansUNC-16 (JIP3) at the Axon Initial Segment

(2013) Stacey L. Edwards et al.   GENETICS

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

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

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model

(2013) Fumihiro Watanabe et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

Spartin Regulates Synaptic Growth and Neuronal Survival by Inhibiting BMP-Mediated Microtubule Stabilization

(2013) Minyeop Nahm et al.   NEURON

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

(2013) Mukhran Khundadze et al.   PLoS Genetics

JNK-Interacting Protein 3 Mediates the Retrograde Transport of Activated c-Jun N-Terminal Kinase and Lysosomes

(2013) Catherine M. Drerup et al.   PLoS Genetics

Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons

(2012) Sandra Maday et al.   JOURNAL OF CELL BIOLOGY

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Role of Kinesin-1 in the Pathogenesis of SPG10, a Rare Form of Hereditary Spastic Paraplegia

(2012) Kenji Kawaguchi   NEUROSCIENTIST

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

(2012) Jennifer Hirst et al.   TRAFFIC

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

(2011) Reena Prity Murmu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Oligomerization of ZFYVE27 (Protrudin) Is Necessary to Promote Neurite Extension

(2011) D. V. Krishna Pantakani et al.   PLoS One

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

New insights into the function of Atg9

(2010) Jemma L. Webber et al.   FEBS LETTERS

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2010) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

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

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

(2009) Hilda T.H. Tsang et al.   HUMAN MOLECULAR GENETICS

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

(2009) Marie-Paule Muriel et al.   JOURNAL OF NEUROCHEMISTRY

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

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

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

Early Onset Familial Alzheimer Disease With Spastic Paraparesis, Dysarthria, and Seizures and N135S Mutation in PSEN1

(2008) Leslie A. Rudzinski et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

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