Results 71 to 80 of about 796 (126)

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II. [PDF]

Cell Commun Signal
Fecher-Trost C, Gehl AL, Trunk A, Hellmich J, Wesely C, Löhr H, Buchholz S, Cole M, Beck A, Meyer MR, Wissenbach U.   +10 more
europepmc   +1 more source

Biochemical and ultrastructural diagnostic problems in mucolipidoses

, 1991
Lászik, Z., Klujber, L., László, Aranka, Havass, Z.   +3 more
core   +1 more source

LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase. [PDF]

Mol Biol Cell
Doray B, Jennings BC, Yang X, Liu L, Venkatarangan V, Kornfeld S, Li M.   +6 more
europepmc   +1 more source

Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta. [PDF]

BMC Pediatr
Feng Y, Huang Y, Zhao X, Sheng H, Su X, Yin X, Li L, Zhang W.   +7 more
europepmc   +1 more source

Expanding the Phenotype Spectrum of β-Mannosidosis. [PDF]

Neurol Genet
Martin Rios AM, Gibbs LH, Stepien KM, Hall K, Hall PL, Bentz Pino G, Wang RY, Pillai NR, Lund T, Orchard PJ, Kimonis VE.   +10 more
europepmc   +1 more source

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective. [PDF]

J Clin Med
Castaman G, Linari S, Barbato A, Costantino N, Dionisi-Vici C, Menni F, Procopio E, Ramat S, Torquati F, Verrecchia E, Scarpa M.   +10 more
europepmc   +1 more source

Myosin VB is critical for progenitor cell identity and function in the intestine. [PDF]

Stem Cell Reports
Burman A, Brown ME, Yang Y, Momoh M, Adeniran F, Ramos C, Lau KS, Samuelson LC, Shub MD, Roland JT, Kaji I.   +10 more
europepmc   +1 more source

Disruption of Man-6-P-Dependent Sorting to Lysosomes Confers IGF1R-Mediated Apoptosis Resistance. [PDF]

Int J Mol Sci
Aynaci A, Toussaint M, Gilis F, Albert M, Gaussin JF, Jadot M, Boonen M.   +6 more
europepmc   +1 more source

Genetic Insights and Clinical Implications of <i>NEU1</i> Mutations in Sialidosis. [PDF]

Genes (Basel)
Peng ML, Chau SF, Chien JY, Chien JY, Woon PY, Chen YC, Cheang WM, Tsai HY, Huang SP.   +8 more
europepmc   +1 more source

Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study. [PDF]

Orphanet J Rare Dis
Hsueh SJ, Lin CH, Lee NC, Chang TM, Fan SP, Huang WD, Lin YH, Tsai LK, Chien YH, Lee MJ, Hwu WL, Hsueh HW, Yang CC.   +12 more
europepmc   +1 more source