… This and three other mutations in GNPTAB occurred in unrelated subjects with stuttering
but not in control subjects. We also identified three mutations in the GNPTG gene, which …

… the lysosomal enzyme targeting pathway, defective in mucolipidosis. ► Stuttering individuals
… most common manifestation of mutations in NAGPA is persistent developmental stuttering. …

… mutations and gray matter volume differences in stuttering. However, our results support
further study of the involvement of lysosomal enzyme targeting … , or KEGG pathways (Kyoto …

… Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J …
In this study, 1013 individuals with persistent stuttering from the United States, England, …

… for the involvement of mutations in the lysosomal enzyme-targeting pathway in stuttering.
The … Given our results implicating mutations affecting lysosomal function in stuttering, it is …

… (“uncovering enzyme” (UCE); EC 3.1.4.45) is a Golgi enzyme … mannose 6-phosphate lysosomal
targeting signal on acid … of this mutant UCE is mediated by the proteasomal pathway, as …

… Our findings support the premise that mutations in the lysosomal processing pathway may
induce alterations in other genetic functionalities dwelling in the same cortical areas, the most …

… mutations in the lysosomal enzyme-targeting pathway genes ( GNPTAB , GNPTG and NAPGA
) are associated with non-syndromic persistent stuttering… genetic causes of stuttering, only …

… These genes encode the components of the pathway that … in lysosomal enzyme targeting
give rise to non-syndromic … homozygous mutations in AP4E1 (along with mutations in GNPTAB …

… of these four lysosomal enzyme-trafficking pathway genes to stuttering account for only 10%
of … Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J …