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Acta Neuropathologica, ISSN 0001-6322, 11/2015, Volume 130, Issue 5, pp. 679 - 697
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 579 - 586
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 946 - 954
Journal Article
Cell Death and Disease, ISSN 2041-4889, 2014, Volume 5, Issue 6, pp. e1290 - e1290
Intracellular accumulations of altered, misfolded proteins in neuronal and other cells are pathological hallmarks shared by many neurodegenerative diseases... 
UBIQUITIN-PROTEASOME SYSTEM | MONITORING AUTOPHAGY | EPIDERMAL-GROWTH-FACTOR | AGGREGATE-PRONE PROTEINS | NUTRIENT STARVATION | AMYOTROPHIC-LATERAL-SCLEROSIS | MOTOR-NEURON DISEASE | SIGMA-1 RECEPTOR | CELL-SURVIVAL | NEURODEGENERATIVE DISEASES | CELL BIOLOGY | Index Medicus | Original
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2011, Volume 286, Issue 43, pp. 37665 - 37675
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 8, pp. 2787 - 2800
The a subunit is the largest of 15 different subunits that make up the vacuolar H+-ATPase (V-ATPase) complex, where it functions in proton translocation. In... 
TOPOLOGY | TRANSPORT | ISOFORMS | N-LINKED GLYCOSYLATION | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXES | ACIDIFICATION | OSTEOPETROSIS | VACUOLAR H+-ATPASE | Golgi Apparatus - enzymology | Vacuolar Proton-Translocating ATPases - genetics | Kidney - pathology | Humans | Kidney - enzymology | Protein Multimerization | Acidosis, Renal Tubular - genetics | Endoplasmic Reticulum - metabolism | Golgi Apparatus - pathology | Mutation, Missense | Recombinant Fusion Proteins - metabolism | Vacuolar Proton-Translocating ATPases - metabolism | Proton-Translocating ATPases - metabolism | Endoplasmic Reticulum - pathology | Kidney - metabolism | Proton-Translocating ATPases - genetics | Proteolysis | Acidosis, Renal Tubular - pathology | Cell Membrane - pathology | HEK293 Cells | Cell Membrane - metabolism | Protein Interaction Domains and Motifs | Cutis Laxa - metabolism | Endoplasmic Reticulum - enzymology | Enzyme Stability | Models, Molecular | Cutis Laxa - genetics | Glycosylation | Recombinant Fusion Proteins - chemistry | Acidosis, Renal Tubular - metabolism | Protein Transport | Proton-Translocating ATPases - chemistry | Cell Membrane - enzymology | Vacuolar Proton-Translocating ATPases - chemistry | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Proteasome Endopeptidase Complex - metabolism | Cutis Laxa - pathology | Amino Acid Substitution | Index Medicus | Molecular Bases of Disease | 3D modeling | proton pump | ATPase | ER-associated degradation | membrane protein | trafficking | N-glycosylation | protein degradation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 181 - 190
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms... 
HUTTERITE POPULATION | COMPLEX | TRANSPORT | MUTANTS | DANON-DISEASE | GENE | GENETICS & HEREDITY | COMPONENTS | LINKAGE ANALYSIS | GOLGI | IDENTIFICATION | Sequence Deletion | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Male | Multiprotein Complexes - genetics | Golgi Apparatus - pathology | Syria | Intellectual Disability - genetics | Exome | Young Adult | Endoplasmic Reticulum - pathology | Multiprotein Complexes - metabolism | Lysosomes - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Adult | Female | Ataxia - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | RNA Splice Sites | Creatine Kinase - blood | Endoplasmic Reticulum - genetics | Movement Disorders - pathology | Vesicular Transport Proteins - genetics | Chromosome Mapping | Muscular Diseases - pathology | Protein Transport | Homozygote | Pedigree | Adolescent | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Golgi Apparatus - metabolism | Consanguinity | Movement Disorders - genetics | Muscular Diseases - genetics | Lysosomal-Associated Membrane Protein 2 | Golgi Apparatus - genetics | Gene mutations | Physiological aspects | Child development deviations | Muscle diseases | Genetic aspects | Research | Developmental disabilities | Learning disabilities | Genomes | Glycoproteins | Mutation | Motor ability | Index Medicus | Report
Journal Article