List of works - Mark T Handley

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

scientific article published on 21 April 2016

A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3

scientific article published on 01 January 2008

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

scientific article

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Differential dynamics of Rab3A and Rab27A on secretory granules.

scientific article published on 20 February 2007

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

scientific article published on 11 March 2019

Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling

article by Elaine Hemers et al published 15 August 2005 in Cancer Research

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

scientific article published on 11 March 2014

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.

scientific article published in May 2011

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

scientific article

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

scientific article

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

scientific article

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

scientific article published on December 2012

Rab18 and a Rab18 GEF complex are required for normal ER structure

scientific article

Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder

scientific article

The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

scientific journal article

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

scientific article

List of works by Mark T Handley

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Differential dynamics of Rab3A and Rab27A on secretory granules.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

Rab18 and a Rab18 GEF complex are required for normal ER structure

Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder

The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation