1 MSUD can be classified into genetic subtypes according t
2 MSUD is an orphan disease with a need for novel drug int
3 MSUD may provide insights into the function of genes nec
4 rhegmatogenous retinal detachment (RRD) in
a MSUD patient.
5 Another MSUD mutation (T166M-alpha), which affects one of the re
6 neuropsychiatric problems among 37
classical MSUD patients (ages 5-35 years, 26 on dietary therapy, 1
7 Compared with 26 age-matched
controls,
MSUD patients were at higher risk for disorders of cogni
8 rom 63 individuals with clinically
diagnosed MSUD were tested by retroviral complementation of branch
9 d as the cause of maple syrup urine
disease (
MSUD) for decades, treatment options for this disorder h
10 Maple syrup urine
disease (
MSUD) is a metabolic disorder associated with often-fata
11 Maple syrup urine
disease (
MSUD) is a rare metabolic disorder, affecting the metabo
12 Maple syrup urine
disease (
MSUD) is a rare, autosomal recessive disorder of branche
13 Maple Syrup Urine
Disease (
MSUD) is an inherited disorder caused by the dysfunction
14 Maple syrup urine
disease (
MSUD) is an inherited disorder of branched chain amino a
15 Maple syrup urine
disease (
MSUD) is an inherited disorder of branched-chain amino a
16 Maple syrup urine
disease (
MSUD) or branched-chain alpha-ketoaciduria is an autosom
17 these residues in maple syrup urine
disease (
MSUD) patients (R114W-alpha and R220W-alpha) or site-dir
18 Maple syrup urine
disease (
MSUD) results from mutations affecting different subunit
19 Untreated maple syrup urine
disease (
MSUD) results in mental and physical disabilities and of
20 te types of human maple syrup urine
disease (
MSUD), a hereditary disorder caused by defects in BCKD a
21 iseases including maple syrup urine
disease (
MSUD), autism, and other related neurological disorders.
22 in patients with maple syrup urine
disease (
MSUD), phenylketonuria (PKU), and other metabolic diseas
23 te-onset forms of maple syrup urine
disease (
MSUD).
24 volved in meiotic silencing by unpaired
DNA (
MSUD) and observed macromolecular complex formation invo
25 , whereas meiotic silencing by unpaired
DNA (
MSUD) silences unpaired genes during meiosis.
26 known as meiotic silencing by unpaired
DNA (
MSUD).
27 sm called meiotic silencing by unpaired
DNA (
MSUD).
28 known as meiotic silencing by unpaired
DNA (
MSUD).
29 is called Meiotic Silencing by Unpaired
DNA (
MSUD).
30 ss called meiotic silencing by unpaired
DNA (
MSUD).
31 process, meiotic silencing by unpaired
DNA (
MSUD).
32 n observed in the cerebellum of
experimental MSUD animals, as well as postmortem brain tissue from a
33 ned during surgery from a 24 year old
female MSUD patient successfully operated on RRD.
34 uman BCKD and provide a structural basis
for MSUD.
35 and will facilitate DNA-based diagnosis
for MSUD in the Israeli population.
36 and will facilitate DNA-based diagnosis
for MSUD in the Israeli population.
37 te providing information on the genotype
for MSUD.
38 he neonatal stage is clinically relevant
for MSUD and may offer a donor cell engraftment advantage.
39 Two genes required
for MSUD have been described previously: sad-1 (suppressor o
40 work has uncovered six proteins required
for MSUD, all of which are also essential for meiotic progre
41 characterized two new proteins required
for MSUD, namely SAD-4 and SAD-5.
42 DCL-1 and DCL-2, only DCL-1 is required
for MSUD.
43 siRNA during Quelling, is also required
for MSUD.
44 ected RNA polymerase (RdRP), is required
for MSUD.
45 alternative potential treatment strategy
for MSUD.
46 as a viable alternative clinical therapy
for MSUD and other liver-based metabolic diseases.
47 itical contributor to the pathology of
human MSUD.
48 2Cm may be responsible for a subset of
human MSUD.
49 identify and characterize two novel type
IB MSUD mutations in Israeli patients, which affect the E1b
50 are unique compared to previously
identified MSUD proteins in that neither is required for sexual spo
51 nsive phenotype with a subset of the type
II MSUD patients studied is also discussed.
52 ution in the E2 transacylase gene of type
II MSUD, in which the E2 subunit of the BCKD complex is def
53 In MSUD, glutamate has been implicated in the pathogenesis
54 artate (NAA), and creatine concentrations
in MSUD patients, which correlated with specific neuropsych
55 n can restore skeletal muscle homeostasis
in MSUD by decreasing mitochondrial KIC production.
56 s and vitreous the amino acids implicated
in MSUD (Valine, Leukine Isoleukine), were within normal ra
57 tudy, we identified seven novel mutations
in MSUD patients from Israel.
58 tablish a genotype/phenotype relationship
in MSUD, with the ultimate goal of unraveling the complexit
59 A murine model of
intermediate MSUD (iMSUD) shows significant skeletal muscle dysfuncti
60 nd in patients with late-onset,
intermediate MSUD.
61 SAD-4, like all
known MSUD proteins, localizes in the perinuclear region of th
62 milar among transplanted and
nontransplanted MSUD patients.
63 ar region, suggesting that it is a center
of MSUD activity.
64 prenatal diagnosis and carrier detection
of MSUD in this group.
65 Although inheritance
of MSUD adheres to rules for single-gene traits, mutations
66 The pathology
of MSUD has been attributed mainly to BCAA accumulation, bu
67 and their corresponding BCKA in a subset
of MSUD patients and studies of its long-term efficacy are
68 the effect of phenylbutyrate in a subset
of MSUD patients.
69 Nevertheless, at least a subset
of MSUD proteins must be present inside the nucleus, as unp
70 Galactose supplementation
of MSUD patients significantly increased their UDPgalactose
71 est that the region contains a suppressor
of MSUD.
72 residual enzyme activity, while treatment
of MSUD cells resulted in the variable response which did n
73 opment and is shown to colocalize with
other MSUD proteins in the perinuclear region.
74 t Neurospora mutant, Sad-1, fails to
perform MSUD.
75 Psychiatric illness is a
reported MSUD complication, but has not been well characterized a
76 ke those of Sad-1, are dominant and
suppress MSUD.
77 for either of the killer haplotypes
suppress MSUD even though ascospores are not killed.
78 tivation of either sad-1 or sad-2
suppresses MSUD.
79 We have now shown
that MSUD is also suppressed by either of two Spore killer st
80 full-length mutant E2 is diagnostic of
this MSUD phenotype.
81 This homozygous-fertile phenotype
uncouples MSUD from sexual development and allows us to demonstrat
82 a limited number of mutations might
underlie MSUD in the AJ population, potentially facilitating pren
83 large proportion (10 of 34) of families
with MSUD that were followed in our clinic were of Ashkenazi
84 We show that young patients
with MSUD or PKU have decreased average RBC UDPgalactose conc
85 Six patients
with MSUD were also supplemented with 19 g galactose/d and th
86 entified in seven unrelated AJ patients
with MSUD.