Mark T. Handley

Publications30
h-index16
Citations992
Highly Influential Citations76
Claim Author Page
Author pages are created from data sourced from our academic publisher partnerships and public sources.

Recommended Authors

  • R. Burgoyne
  • 427 Publications • 20,816 Citations
  • I. Aligianis
  • 37 Publications • 2,053 Citations
  • F. Barr
  • 164 Publications • 14,077 Citations
  • T. Südhof
  • 764 Publications • 122,851 Citations
  • Publications
  • Influence
Rab18 and a Rab18 GEF complex are required for normal ER structure
The Rab3GAP complex that is mutated in the neurological disorder Micro syndrome is a guanine nucleotide exchange factor that promotes Rab18 localization to the endoplasmic reticulum.
View PDF
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
TLDR
Genotype–phenotype correlations for these genes have now established that the clinical phenotypes in Micro syndrome and MS represent a phenotypic continuum related to the nature and severity of the mutations present in the disease genes, with more deleterious mutations causing Micro Syndrome and milder mutations causing MS.
View on Wiley
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
View on PubMed
Differential dynamics of Rab3A and Rab27A on secretory granules
TLDR
It is suggested that the finding that young secretory granules have a higher capacity for binding Rab3A and Rab27A is functionally important for preferential exocytosis from these granules.
View on Publisher
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
View on PubMed
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
TLDR
SATB2 haploinsufficiency is a common cause of syndromic intellectual disability and the clinical features in individuals with missense variants were indistinguishable from those with loss of function.
View on Nature
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
View on PubMed
Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder
TLDR
It is speculated that impairment of the normal cycling of NCS-1 by the R102Q mutation could have subtle effects on neuronal signalling and physiology in the developing and adult brain.
View PDF
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton
TLDR
The generation and characterisation of a novel Rab18-mutant mouse model of Warburg Micro syndrome indicate that the Rab 18-Mutant mouse provides an important platform for investigation of the disease pathogenesis and therapeutic interventions.
View on Publisher
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
TLDR
It is shown that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered, and this indicates that Warburg Micro syndrome can be caused directly by loss of RAB 18, or indirectly through loss ofRAB18 regulators RAB4GAP, RAB2GAP and TBC3G AP.
View on Royal Society
...
...