De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

(2020) Alba Sanchis‐Juan et al.   Molecular Genetics & Genomic Medicine

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects

(2020) Katie G. Seu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

(2019) Courtney E. French et al.   INTENSIVE CARE MEDICINE

The role of VPS4 in ESCRT-III polymer remodeling

(2019) Christophe Caillat et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Structure of Vps4 with circular peptides and implications for translocation of two polypeptide chains by AAA+ ATPases

(2019) Han Han et al.   eLife

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

(2019) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

The many functions of ESCRTs

(2019) Marina Vietri et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

VPS4 is a dynamic component of the centrosome that regulates centrosome localization of γ-tubulin, centriolar satellite stability and ciliogenesis

(2018) Carolyn Ott et al.   Scientific Reports

ESCRT-III mediates budding across the inner nuclear membrane and regulates its integrity

(2018) Jun Arii et al.   Nature Communications

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

(2018) Christiane K. Bauer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structures, Functions, and Dynamics of ESCRT-III/Vps4 Membrane Remodeling and Fission Complexes

(2018) John McCullough et al.   Annual Review of Cell and Developmental Biology

CC2D1B Coordinates ESCRT-III Activity during the Mitotic Reformation of the Nuclear Envelope

(2018) Leandro N. Ventimiglia et al.   DEVELOPMENTAL CELL

A map of constrained coding regions in the human genome

(2018) James M. Havrilla et al.   NATURE GENETICS

Protein Data Bank: the single global archive for 3D macromolecular structure data

(2018) et al.   NUCLEIC ACIDS RESEARCH

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

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

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

(2017) Chao Wang et al.   Stem Cell Reports

Reverse-topology membrane scission by the ESCRT proteins

(2016) Johannes Schöneberg et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

ESCRT III repairs nuclear envelope ruptures during cell migration to limit DNA damage and cell death

(2016) M. Raab et al.   SCIENCE

Compact and highly active next-generation libraries for CRISPR-mediated gene repression and activation

(2016) Max A Horlbeck et al.   eLife

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

ESCRT-III controls nuclear envelope reformation

(2015) Yolanda Olmos et al.   NATURE

Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing

(2015) Marina Vietri et al.   NATURE

Structure and membrane remodeling activity of ESCRT-III helical polymers

(2015) J. McCullough et al.   SCIENCE

ULK3 regulates cytokinetic abscission by phosphorylating ESCRT-III proteins

(2015) Anna Caballe et al.   eLife

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

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

An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome

(2013) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

Hrs- and CD63-Dependent Competing Mechanisms Make Different Sized Endosomal Intraluminal Vesicles

(2013) James R. Edgar et al.   TRAFFIC

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

Coordination of Kinase and Phosphatase Activities by Lem4 Enables Nuclear Envelope Reassembly during Mitosis

(2012) Claudio Asencio et al.   CELL

Identification of an AAA ATPase VPS4B-Dependent Pathway That Modulates Epidermal Growth Factor Receptor Abundance and Signaling during Hypoxia

(2012) H. H. Lin et al.   MOLECULAR AND CELLULAR BIOLOGY

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

(2012) Ganeshwaran H Mochida et al.   NATURE GENETICS

Structure and function of the AAA+ nucleotide binding pocket

(2011) Petra Wendler et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Human ESCRT-III and VPS4 proteins are required for centrosome and spindle maintenance

(2010) E. Morita et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Essential Role of hIST1 in Cytokinesis

(2009) Monica Agromayor et al.   MOLECULAR BIOLOGY OF THE CELL

Structural basis for ESCRT-III protein autoinhibition

(2009) Monika Bajorek et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B

(2008) Dong Yang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Nucleotide-Dependent Conformational Changes and Assembly of the AAA ATPase SKD1/VPS4B

(2008) Michio Inoue et al.   TRAFFIC

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

(2008) James W. Connell et al.   TRAFFIC