Disease relevance of GNPTAB

• Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase [1].
• METHODS: The case population consisted of all patients with erosive esophagitis (International Classification of Diseases code 530.1) or esophageal stricture (ICD code 530.3) who were discharged from hospitals of the Department of Veteran Affairs between 1981 and 1994 [2].
• METHODS AND RESULTS: The records of 111 consecutive patients who had undergone transvenous cardioverter/defibrillator (ICD) implantation for malignant ventricular arrhythmias were reviewed retrospectively [3].
• METHODS AND RESULTS: Fifty-five patients receiving an ICD for treatment of sustained ventricular tachyarrhythmias underwent serial EPSs after implantation of the ICD [4].
• Although sudden death recurrence in ICD recipients is virtually eliminated, the extent of benefit both with respect to cardiac mortality and total survival in this patient population remains to be accurately quantitated, particularly vis-à-vis alternative antiarrhythmic therapies [5].

Psychiatry related information on GNPTAB

• According to ICD 10 diagnostic criteria, 28 patients had Alzheimer dementia (demented: diagnostic group 1), and 13 had organic personality disorders or mild cognitive impairment not attributable to dementia (nondemented: diagnostic group 2) [6].
• Studies selected included randomized, controlled trials comparing lithium with placebo or all other compounds used in long-term treatment for mood disorders (unipolar depression, bipolar disorder, schizoaffective disorder, dysthymia, and rapid cycling, diagnosed according to DSM or ICD criteria) [7].
• The criterion of suppression/non-suppression did not distinguish significantly between diagnostic categories (RDC or ICD), nor between endogenous and neurotic depression [8].
• ICD mood disorders as well as neuroses and related disorders were not significantly associated with low IQ scores [9].
• The description of the borderline patient obtained in this study does not overlap with any existing ICD personality disorder but has characteristics of the schizoid, paranoid, hysteric, explosive, anankastic and antisocial personalities [10].

High impact information on GNPTAB

• Retroviral transduction of fibroblasts from an individual with ML II resulted in the expression and localization of GNPTA in the Golgi apparatus, accompanied by the correction of hypersecretion of lysosomal enzymes [1].
• These results indicate that p75-mediated apoptosis requires gamma-secretase dependent release of its ICD, which facilitates nuclear translocation of NRIF [11].
• This targeting occurs in the absence of detectable mannose 6-phosphate residues on the cathepsin D and is not observed in ICD fibroblasts [12].
• We find that an ICD B lymphoblastoid cell line targets about 45% of the lysosomal protease cathepsin D to dense lysosomes [12].
• To determine whether these diseases are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene (GNPTAB), we sequenced GNPTAB exons and flanking intronic sequences and measured GlcNAc-phosphotransferase activity in patient fibroblasts [13].

Chemical compound and disease context of GNPTAB

• B lymphocytes from patients with I-cell disease (ICD) maintain normal cellular levels of lysosomal enzymes despite a deficiency of the enzyme UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [12].
• CONCLUSIONS: Plasma viraemia and ICD-p24 Ag, while providing useful short-term markers of zidovudine antiviral activity in vivo, do not correlate with disease progression in patients with advanced HIV infection [14].
• CONCLUSION: These virological data show that 3TC is a potent inhibitor of HIV replication in HIV-positive, asymptomatic or mild ARC patients as assessed by ICD p24 antigenaemia, plasma HIV RNA load and cell viraemia [15].
• Patients suffering from manic-depressive psychosis, manic type (ICD 296.0), were treated with lithium carbonate and randomly allocated to two groups, one received digoxin and the other matching placebo for 7 days [16].
• The role of amiodarone versus ICD, especially for patients with well-tolerated VT and milder forms of cardiomyopathies, is yet to be defined [17].

Biological context of GNPTAB

• Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study [18].
• This is the first example of constitutive kinase activation and dimerization totally within the cytoplasmic domain of an ErbB receptor and suggests that the s80 ICD may function to phosphorylate substrates in the cytoplasm or nucleus [19].
• In ischaemic patients with a left ventricular ejection fraction (LVEF) < 40%, NSVT has an adverse prognostic significance and electrophysiologic testing is indicated with a view to ICD implantation [20].
• Both ACD and ICD showed exocytosis and similar degrees of spongiosis on RCM [21].
• This work was designed to investigate the kinetics of both allergic and irritant CD (ACD and ICD) in vivo [21].

Anatomical context of GNPTAB

• Evaluation of patients, after randomization, included the ICD and ACD, ABI, popliteal artery flow with duplex and QOL* at baseline*, 1/12, 2/12, 3/12, 4/12, 5/12* and 17/12 [22].
• The markers include 6 RFLP markers, 11 microsatellites that provisionally had been mapped to the region 13q14-21, and 2 new polymorphic CA-repeats that were developed from an EMBL3 library of cell line ICD, containing 13pter-q14 [23].
• By providing a separate rubric for the meninges, the 10th Revision of the ICD (WHO, 1993) should--combined with the morphology rubrics of the second edition of the International Classification of Diseases-Oncology (Percy et al 1990)--make such an endeavour somewhat easier [24].
• Five-year relative survival of male patients with cancer of the tongue, mouth and pharynx (ICD 141, 143-148) was 34% and ranged from over 45% in Iceland, Sweden, The Netherlands and Austria to less than 25% in Eastern European countries [25].
• However, these observations must be interpreted with caution inasmuch as according to the ICD, STS are classified both with specified organs and with the connective tissue [26].

Associations of GNPTAB with chemical compounds

• This time sucrose loading was applied to the cultured skin fibroblasts from the patients with ICD [27].
• Here, we demonstrate that the s80 ICD is a constitutively active tyrosine kinase and can form homodimers [19].
• A virologic response under zidovudine was defined as > 50% decrease in ICD-p24 Ag levels or > 1 log10 decrease in plasma or cellular viraemia titres from baseline values [14].
• A new high-performance capillary electrophoretic (HPCE) method with an on-line mode in-capillary derivatization (ICD) procedure for determinations of some amines using 20 mmol/L sodium dodecyl sulfate (SDS) - 2 mmol/L o-phthalaldehyde (OPA) - 2 mmol/L N-acetylcysteine (NAC) - 20 mmol/L phosphate-borate buffer [9] has previously been shown [28].
• Among other cancer sites, an increase in risk of neoplasia of the upper gastro-intestinal tract (ICD 150, 151, 152) was demonstrated [29].

Regulatory relationships of GNPTAB

• Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG [30].

Other interactions of GNPTAB

• We identified seven mutations in the GNPTA gene, but none in GNPTAG [31].

Analytical, diagnostic and therapeutic context of GNPTAB

• Driving and the implantable cardioverter defibrillator. Study Group on ICD and Driving [32].
• ICD use as a bridge to cardiac transplantation [33].
• Adverse events with transvenous implantable cardioverter-defibrillators: a prospective multicenter study. European 7219 Jewel ICD investigators [34].
• METHODS AND RESULTS: Adverse events were monitored during prospective clinical evaluation of the Medtronic model 7219 Jewel ICD and were classified according to the definitions of the ISO 14155 standard for device clinical trials into 3 groups: severe and mild device-related and severe non-device-related adverse events [34].
• Many inclusion materials are seen by phase contrast microscopy in cultured skin fibroblasts from the patients with ICD [27].

References