P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients

P716: Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients

Saved in:

Bibliographic Details
Main Authors:	Shelly Goomber, Catherine Rehder, Benjamin Cocanougher, Seung-Hye Jung, Gregory Crawford, Deeksha Bali, Priya Kishnani
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425011240
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio
by: Anderson Kuntz Grzesiuk, et al.
Published: (2010-04-01)

Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity
by: Michelle Eggers, et al.
Published: (2021-12-01)

Получение микропористых слоев GaAs методом химического травления на подложках р-GaAs и их фотолюминесценция
by: G. A. Paschenko, et al.
Published: (2012-02-01)

Terahertz Modulation of Even-order Polarization in GaAs
by: Jianhua Sang, et al.
Published: (2025-01-01)

Probing structural alterations in shock compressed GaAs
by: Mithun Bhowmick, et al.
Published: (2025-03-01)

The numerical models of the estimation of the electrooptical parameters of GaAs
by: Albertas Pincevičius, et al.
Published: (2002-12-01)

Study of optical properties for Ge - GaAs Heterojunction
by: Baghdad Science Journal
Published: (2011-06-01)

Radiation Resistance of Epitaxial Structures Based on GaAs
by: E. N. Vigdorovich
Published: (2019-06-01)

New Results on Bandwidth of GaAs PIN Photodiodes
by: M. A. Grado Caffaro, et al.
Published: (1993-01-01)

Plasma-Optical Effect in GaAs PIN Photodiodes
by: M. A. Grado Caffaro, et al.
Published: (1993-01-01)

Material Dispersion in Intrinsic GaAs for the Far-Infrared Range
by: M. A. Grado-Caffaro, et al.
Published: (1998-01-01)

Memory resistor based on GaAs 2D-bilayers
by: C. Marty, et al.
Published: (2025-03-01)

Novel silicon and GaAs sensors for compact sampling calorimeters
by: H. Abramowicz, et al.
Published: (2025-06-01)

Modeling and Design of Graphene GaAs Junction Solar Cell
by: Yawei Kuang, et al.
Published: (2015-01-01)

Exploring GAA-Nanosheet, Forksheet and GAA–Forksheet Architectures: A TCAD-DTCO Study at 90 nm and 120-nm Cell Height
by: Gautam Gaddemane, et al.
Published: (2025-01-01)

Investigation of surface potential of GaAs surface by means of acoustoelectric effects
by: T. PUSTELNY, et al.
Published: (2014-05-01)

Arsenic Diffusion in MOVPE‐Grown GaAs/Ge Epitaxial Structures
by: V. Orejuela, et al.
Published: (2024-09-01)

Lead Catalyzed GaAs Nanowires Grown by Molecular Beam Epitaxy
by: Igor V. Shtrom, et al.
Published: (2024-11-01)

Current Density of AlxGa1-xAs/GaAs Superlattice
by: Ahmed Z. Obaid, et al.
Published: (2024-09-01)

A Dual Core Source/Drain GAA FinFET
by: Prachuryya Subash Das, et al.
Published: (2023-06-01)

The Transition Processes in Microelectronic Ag-Ge-In/n-GaAs Compositions
by: V.S. Dmitriev, et al.
Published: (2017-04-01)

Deformed Polaron Bind Energy in the Quantum Dot InAs/GaAs
by: V.I. Hrushka, et al.
Published: (2016-12-01)

Fabrication, properties and application of Ge-on-GaAs thin nanoheterogeneous films
by: E. F. Venger, et al.
Published: (2014-08-01)

A Comparison Between GaAs Mesfet and Si NMOS ESD Behaviour
by: A. J. Franklin, et al.
Published: (1987-01-01)

19~21 GHz GaAs high linearity power amplifier MMIC
by: Liu Xiaoyu, et al.
Published: (2025-04-01)

Photosensitive AlGaAs / GaAs Structures Grown by Molecular Beam Epitaxy
by: M.A. Bazalevsky, et al.
Published: (2014-07-01)

Structural and optical study of alternating layers of In and GaAs prepared by magnetron sputtering
by: S. Torres- Jaramillo, C. Pulzara-Mora, R. Bernal-Correa, M. Venegas de la Cerda, S. Gallardo-Hernández, M. López-López, A. Pulzara-Mora
Published: (2019-11-01)

Numerical Analysis of AlGaAs/InGaAs/GaAs pHEMT
by: A. V. Sapozhnikov, et al.
Published: (2025-07-01)

Electrophysical and photoelectric characteristics of a three-barrier photodiode GaAs structure
by: O. A. Abdulkhaev, et al.
Published: (2018-08-01)

Absolute Electroluminescence Imaging Diagnosis of GaAs Thin-Film Solar Cells
by: XiaoBo Hu, et al.
Published: (2017-01-01)

In Situ Study of Axial GaSb/GaAs Nanowire Heterostructure Formation
by: Mikelis Marnauza, et al.
Published: (2025-04-01)

Output Characteristics of a GaAs Photoconductive Semiconductor Switch With Comb Electrodes
by: Yong Pyo Kim, et al.
Published: (2024-01-01)

P153: Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease*
by: Neelam Makhijani, et al.
Published: (2025-01-01)

Study on phase characteristics of heterostructure por-Ga2O3/GaAs
by: S. S. Kovachov, et al.
Published: (2024-05-01)

Design of a millimeter-wave wideband filtering balun in GaAs IPD technology
by: Yijun Li, et al.
Published: (2025-06-01)

Physicochemical conditions of GaAs/GaAsxNy/GaN nanochips stability
by: N. V. Komarovskih, et al.
Published: (2015-03-01)

ETCHING MECHANISM OF CCl<sub>4</sub>-DOPED GaAs GROWN BY MOCVD
by: Т. А. Bagaev, et al.
Published: (2013-08-01)

On spurious bulk wave exicitation in SAW grating reflectorson GaAs (001) (110)
by: E. DANICKI, et al.
Published: (2014-01-01)

Microresonator-enhanced quantum dot single-photon emission in GaAs-on-insulator platform
by: Yueguang Zhou, et al.
Published: (2024-01-01)

Estimation of the MQW InGaAs/GaAs heterostructures stability to the formation of misfit dislocations
by: A. A. Maldzhy, et al.
Published: (2006-12-01)