1 MSUD can be classified into genetic subtypes according t
2 MSUD is an inborn error of metabolism characterized by r
3 MSUD is an orphan disease with a need for novel drug int
4 MSUD may provide insights into the function of genes nec
5 (
1)
MSUD patients: 10 patients received a left lateral segme
6 (
2)
MSUD graft recipients: In 8 cases, HV reconstruction was
7 , a vena cava triangulation was necessary;
6 MSUD grafts required HV venoplasty.
8 rhegmatogenous retinal detachment (RRD) in
a MSUD patient.
9 iver transplantation at our institution,
and MSUD livers were used as domino grafts in 11 children.
10 Another MSUD mutation (T166M-alpha), which affects one of the re
11 neuropsychiatric problems among 37
classical MSUD patients (ages 5-35 years, 26 on dietary therapy, 1
12 Compared with 26 age-matched
controls,
MSUD patients were at higher risk for disorders of cogni
13 rom 63 individuals with clinically
diagnosed MSUD were tested by retroviral complementation of branch
14 antation (DLT) in maple syrup urine
disease (
MSUD) are limited.
15 d as the cause of maple syrup urine
disease (
MSUD) for decades, treatment options for this disorder h
16 Maple syrup urine
disease (
MSUD) is a metabolic disorder associated with often-fata
17 Maple syrup urine
disease (
MSUD) is a rare metabolic disorder, affecting the metabo
18 Maple syrup urine
disease (
MSUD) is a rare, autosomal recessive disorder of branche
19 Maple Syrup Urine
Disease (
MSUD) is an inherited disorder caused by the dysfunction
20 Maple syrup urine
disease (
MSUD) is an inherited disorder of branched chain amino a
21 Maple syrup urine
disease (
MSUD) is an inherited disorder of branched-chain amino a
22 Maple syrup urine
disease (
MSUD) or branched-chain alpha-ketoaciduria is an autosom
23 these residues in maple syrup urine
disease (
MSUD) patients (R114W-alpha and R220W-alpha) or site-dir
24 Classic maple syrup urine
disease (
MSUD) results from biallelic mutations in genes that enc
25 Maple syrup urine
disease (
MSUD) results from mutations affecting different subunit
26 Untreated maple syrup urine
disease (
MSUD) results in mental and physical disabilities and of
27 te types of human maple syrup urine
disease (
MSUD), a hereditary disorder caused by defects in BCKD a
28 iseases including maple syrup urine
disease (
MSUD), autism, and other related neurological disorders.
29 in patients with maple syrup urine
disease (
MSUD), phenylketonuria (PKU), and other metabolic diseas
30 te-onset forms of maple syrup urine
disease (
MSUD).
31 volved in meiotic silencing by unpaired
DNA (
MSUD) and observed macromolecular complex formation invo
32 , whereas meiotic silencing by unpaired
DNA (
MSUD) silences unpaired genes during meiosis.
33 known as meiotic silencing by unpaired
DNA (
MSUD).
34 sm called meiotic silencing by unpaired
DNA (
MSUD).
35 known as meiotic silencing by unpaired
DNA (
MSUD).
36 is called Meiotic Silencing by Unpaired
DNA (
MSUD).
37 ss called meiotic silencing by unpaired
DNA (
MSUD).
38 process, meiotic silencing by unpaired
DNA (
MSUD).
39 Using "meiotic silencing by unpaired
DNA" (
MSUD) as a model process, we demonstrate the existence o
40 d homology are recognized as pairable
during MSUD.
41 n observed in the cerebellum of
experimental MSUD animals, as well as postmortem brain tissue from a
42 ned during surgery from a 24 year old
female MSUD patient successfully operated on RRD.
43 uman BCKD and provide a structural basis
for MSUD.
44 and will facilitate DNA-based diagnosis
for MSUD in the Israeli population.
45 and will facilitate DNA-based diagnosis
for MSUD in the Israeli population.
46 or liver transplantation followed by DLT
for MSUD is a complex procedure and demands technical refine
47 te providing information on the genotype
for MSUD.
48 he neonatal stage is clinically relevant
for MSUD and may offer a donor cell engraftment advantage.
49 Two genes required
for MSUD have been described previously: sad-1 (suppressor o
50 work has uncovered six proteins required
for MSUD, all of which are also essential for meiotic progre
51 characterized two new proteins required
for MSUD, namely SAD-4 and SAD-5.
52 DCL-1 and DCL-2, only DCL-1 is required
for MSUD.
53 siRNA during Quelling, is also required
for MSUD.
54 ected RNA polymerase (RdRP), is required
for MSUD.
55 alternative potential treatment strategy
for MSUD.
56 as a viable alternative clinical therapy
for MSUD and other liver-based metabolic diseases.
57 To develop a gene replacement therapy
for MSUD, we designed a dual-function recombinant adeno-asso
58 itical contributor to the pathology of
human MSUD.
59 2Cm may be responsible for a subset of
human MSUD.
60 identify and characterize two novel type
IB MSUD mutations in Israeli patients, which affect the E1b
61 are unique compared to previously
identified MSUD proteins in that neither is required for sexual spo
62 nsive phenotype with a subset of the type
II MSUD patients studied is also discussed.
63 ution in the E2 transacylase gene of type
II MSUD, in which the E2 subunit of the BCKD complex is def
64 In MSUD, glutamate has been implicated in the pathogenesis
65 artate (NAA), and creatine concentrations
in MSUD patients, which correlated with specific neuropsych
66 ribe our experience in 11 cases of LD-DLT
in MSUD, highlighting the technical aspects of LD-DLT.
67 n can restore skeletal muscle homeostasis
in MSUD by decreasing mitochondrial KIC production.
68 s and vitreous the amino acids implicated
in MSUD (Valine, Leukine Isoleukine), were within normal ra
69 tudy, we identified seven novel mutations
in MSUD patients from Israel.
70 tablish a genotype/phenotype relationship
in MSUD, with the ultimate goal of unraveling the complexit
71 A murine model of
intermediate MSUD (iMSUD) shows significant skeletal muscle dysfuncti
72 nd in patients with late-onset,
intermediate MSUD.
73 SAD-4, like all
known MSUD proteins, localizes in the perinuclear region of th
74 milar among transplanted and
nontransplanted MSUD patients.
75 The main advantage
of MSUD over other experimental systems lies in its ability
76 ar region, suggesting that it is a center
of MSUD activity.
77 prenatal diagnosis and carrier detection
of MSUD in this group.
78 ypes 1A and 1B, the two most common forms
of MSUD in humans.
79 Although inheritance
of MSUD adheres to rules for single-gene traits, mutations
80 The pathology
of MSUD has been attributed mainly to BCAA accumulation, bu
81 and their corresponding BCKA in a subset
of MSUD patients and studies of its long-term efficacy are
82 the effect of phenylbutyrate in a subset
of MSUD patients.
83 Nevertheless, at least a subset
of MSUD proteins must be present inside the nucleus, as unp
84 Galactose supplementation
of MSUD patients significantly increased their UDPgalactose
85 est that the region contains a suppressor
of MSUD.
86 residual enzyme activity, while treatment
of MSUD cells resulted in the variable response which did n
87 n diet and liver transplant for treatment
of MSUD types 1A and 1B, the two most common forms of MSUD
88 opment and is shown to colocalize with
other MSUD proteins in the perinuclear region.
89 t Neurospora mutant, Sad-1, fails to
perform MSUD.
90 Psychiatric illness is a
reported MSUD complication, but has not been well characterized a
91 In two models of
severe MSUD (Bckdha(-/-) and Bckdhb(-/-) mice) and a newborn ca
92 cle, liver, heart, and brain, and
stabilized MSUD biomarkers in the face of high protein ingestion.
93 ke those of Sad-1, are dominant and
suppress MSUD.
94 for either of the killer haplotypes
suppress MSUD even though ascospores are not killed.
95 tivation of either sad-1 or sad-2
suppresses MSUD.
96 Here, we show
that MSUD does not rely on the canonical mechanism of meiotic
97 We have now shown
that MSUD is also suppressed by either of two Spore killer st
98 e arterial anastomoses were performed in
the MSUD liver.
99 ure adequate vascular stumps for the LD,
the MSUD patient, and the recipient of the domino graft.
100 full-length mutant E2 is diagnostic of
this MSUD phenotype.
101 This homozygous-fertile phenotype
uncouples MSUD from sexual development and allows us to demonstrat
102 a limited number of mutations might
underlie MSUD in the AJ population, potentially facilitating pren
103 large proportion (10 of 34) of families
with MSUD that were followed in our clinic were of Ashkenazi
104 We show that young patients
with MSUD or PKU have decreased average RBC UDPgalactose conc
105 ber 2012 to September 2017, 11 patients
with MSUD underwent LD liver transplantation at our instituti
106 Six patients
with MSUD were also supplemented with 19 g galactose/d and th
107 entified in seven unrelated AJ patients
with MSUD.